brachydactyly type E

description: Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.


brachydactyly type A5

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.


brachydactyly type A7

description: Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features.


genochondromatosis type 2

description: Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.


acromesomelic dysplasia

description: A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type


chondrodysplasia punctata

description: A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.


overgrowth syndrome

description: A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.


name: congenital anomaly of kidney and urinary tract

description: A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.


glomerular disorder

description: A disease involving the renal glomerulus.


type II mixed cryoglobulinemia

description: Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).


mixed cryoglobulinemia type III

description: Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs.


heavy chain deposition disease

description: A subtype of monoclonal immunoglobulin deposition disease in which heavy chain deposition results in non-amyloid tissue deposits which may cause organ dysfunction.


name: light and heavy chain deposition disease

description: A subtype of monoclonal immunoglobulin deposition disease in which heavy and light chains deposition results in non-amyloid tissue deposits which may cause organ dysfunction.


light chain deposition disease

description: Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases.


juvenile polymyositis

description: An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.


polymyalgia rheumatica

description: A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression.


dense deposit disease

description: Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen.


thrombotic microangiopathy

description: The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation.


name: atypical hemolytic-uremic syndrome with H factor anomaly


name: atypical hemolytic-uremic syndrome with anti-factor H antibodies


name: acquired thrombotic thrombocytopenic purpura

description: Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


familial cystic renal disease

description: An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome.


autoinflammatory syndrome

description: A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.


pediatric Castleman disease

description: Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms.


localized Castleman disease

description: Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection.


multicentric Castleman disease

description: Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein.


name: developmental defect during embryogenesis

description: A disease that has its basis in the disruption of embryonic morphogenesis.


lobar holoprosencephaly

description: Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.


alobar holoprosencephaly

description: Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.


epispadias

description: Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.


laryngotracheoesophageal cleft type 1

description: Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms.


laryngotracheoesophageal cleft type 2

description: Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections.


laryngotracheoesophageal cleft type 3

description: Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage.


laryngotracheoesophageal cleft type 4

description: Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress.


name: X-linked intellectual disability, Porteous type


hamel cerebro-palato-cardiac syndrome

description: Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.


name: X-linked intellectual disability, Golabi-Ito-hall type

description: Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.


name: X-linked intellectual disability, Sutherland-Haan type


name: X-linked dominant intellectual disability-epilepsy syndrome


oromandibular dystonia

description: Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.


description: Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia.


myelomeningocele

description: Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.


anotia

description: A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.


astrocytoma (excluding glioblastoma)

description: A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.


neovascular glaucoma

description: Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision.


12q14 microdeletion syndrome

description: 12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.


name: severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

description: Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14.


autoimmune enteropathy

description: Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.


non-secreting paraganglioma

description: Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed.


cytophagic histiocytic panniculitis

description: Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue.


neuroleptic malignant syndrome

description: Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.


name: autosomal dominant cerebellar ataxia type I

description: Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.


name: autosomal dominant cerebellar ataxia type III

description: Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.


name: autosomal dominant cerebellar ataxia type IV


acalvaria

description: Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.


acrocephalosyndactyly

description: Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.


acrodysostosis

description: Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.


hepatoerythropoietic porphyria

description: A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis.


acute adrenal insufficiency

description: Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.


secondary short bowel syndrome

description: Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility.


angioma serpiginosum

description: Angioma serpiginosum (AS) is a benign congenital skin disease characterized by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.


tracheomalacia

description: Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.


twin to twin transfusion syndrome

description: Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated


primary progressive aphasia

description: Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).


mesocardia

description: Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.


aortic valve atresia

description: A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure.


congenital aortic valve insufficiency

description: Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.


toxic epidermal necrolysis

description: Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.


congenital tricuspid stenosis

description: Tricuspid valve stenosis that is present at birth.


name: straddling or overriding tricuspid valve

description: Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation.


accessory tricuspid valve tissue

description: Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.


name: congenital mitral valve insufficiency and/or stenosis


double-orifice mitral valve

description: The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.


name: aneurysm or dilatation of ascending aorta


premature closure of the arterial duct

description: Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.


name: non-acquired pituitary hormone deficiency


congenital coronary artery aneurysm

description: Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure.


pituitary stalk interruption syndrome

description: Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.


name: congenital anomaly of superior vena cava


name: congenital anomaly of the inferior vena cava


acquired pituitary hormone deficiency

description: An instance of hypopituitarism that is acquired during the lifetime of the individual.


primary hypophysitis

description: Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease).


adenohypophysitis

description: An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period.


acropectororenal dysplasia

description: Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles.


name: iatrogenic or traumatic pituitary deficiency


acquired central diabetes insipidus

description: Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.


posterior hypospadias

description: Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed.


acquired primary ovarian failure

description: An instance of primary ovarian failure that is acquired during the lifetime of the individual.


inherited primary ovarian failure

description: An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.


thyroid ectopia

description: Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


athyreosis

description: Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


name: congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies

description: Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.


idiopathic congenital hypothyroidism

description: Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.


thyroid hemiagenesis

description: Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


thyroid hypoplasia

description: Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


levocardia

description: A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.


tetrasomy 21

description: Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21.


mosaic trisomy 4

description: Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.


mosaic trisomy 5

description: Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.


mosaic trisomy 8

description: Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.


mosaic trisomy 10

description: Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.


mosaic trisomy 22

description: Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.


distal trisomy 1p36

description: Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.


distal trisomy 2p

description: Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.


distal trisomy 3p

description: Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.


4p16.3 microduplication syndrome

description: 4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.


distal trisomy 7p

description: Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.


name: Beckwith-Wiedemann syndrome due to 11p15 microduplication


name: 8p inverted duplication/deletion syndrome

description: 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.


distal trisomy 2q

description: Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.


3q26 microduplication syndrome

description: 3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.


distal trisomy 4q

description: Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.


distal trisomy 5q

description: Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).


distal trisomy 6q

description: Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.


distal trisomy 8q

description: Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).


distal trisomy 9q

description: Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.


distal trisomy 10q

description: Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.


distal trisomy 11q

description: Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.


distal trisomy 13q

description: Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.


distal trisomy 16q

description: Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.


distal trisomy 20q

description: Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.


distal trisomy 22q

description: Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disability and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.


non-distal trisomy 9q

description: Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.


distal monosomy 19p13.3

description: Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).


name: Kleefstra syndrome due to 9q34 microdeletion


distal monosomy 14q

description: Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.


monosomy 13q34

description: Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.


ring chromosome 2

description: Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).


ring chromosome 3

description: Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.


ring chromosome 9

description: Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.


ring chromosome 11

description: Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.


ring chromosome 13

description: Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.


ring chromosome 15

description: Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.


ring chromosome 16

description: Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.


name: maternal uniparental disomy of chromosome 2

description: Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


name: maternal uniparental disomy of chromosome 4

description: Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


name: maternal uniparental disomy of chromosome 6

description: Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.


name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

description: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).


name: maternal uniparental disomy of chromosome 9

description: Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


name: maternal uniparental disomy of chromosome 14

description: Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).


name: maternal uniparental disomy of chromosome 16


name: maternal uniparental disomy of chromosome 20

description: Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.


name: maternal uniparental disomy of chromosome 21


name: maternal uniparental disomy of chromosome 22


name: paternal uniparental disomy of chromosome 5

description: Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


name: paternal uniparental disomy of chromosome 6

description: Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.


name: paternal uniparental disomy of chromosome 7

description: Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).


name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11


name: paternal uniparental disomy of chromosome 20

description: Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.


name: paternal uniparental disomy of chromosome 21

description: Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


X small rings

description: X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.


name: growth hormone-producing pituitary gland neoplasm

description: An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone.


48,XXXY syndrome

description: The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.


49,XXXXY syndrome

description: The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.


name: Leydig cell hypoplasia due to complete LH resistance


name: Leydig cell hypoplasia due to partial LH resistance


isolated partial vaginal agenesis

description: Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.


acromegaly

description: Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.


polyploidy

description: Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.


anorectal malformation

description: An abnormality of the anus or rectum.


name: hypertrichosis-acromegaloid facial appearance syndrome

description: Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type.


name: hereditary sensory and autonomic neuropathy type 2

description: Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.


distal arthrogryposis

description: A muscle tissue disease characterized by congenital joint contractures of hand and feet.


name: hereditary continuous muscle fiber activity

description: Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.


Eisenmenger syndrome

description: Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.


solar urticaria

description: Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.


rippling muscle disease 2

description: An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.


reducing body myopathy

description: Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers.


congenital muscular dystrophy

description: A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.


rigid spine syndrome

description: Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.


pancreatic neuroendocrine tumor

description: Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma).


GRFoma

description: 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1).


encephalitis

description: An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes.


PPoma

description: PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1).


glucagonoma

description: Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.


VIPoma

description: VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome).


thyroid lymphoma

description: A lymphoma primarily involving the thyroid gland.


bronchial endocrine tumor

description: A neuroendocrine neoplasm that involves the bronchus.


thymic neuroendocrine tumor

description: Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively.


Kienbock disease

description: Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.


panner disease

description: Panner's disease is an osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practicing sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.


Sinding-Larsen-Johansson disease

description: Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterized by tenderness and localized swelling of the patella.


persistent placoid maculopathy

description: Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.


pellagra

description: Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.


dementia pugilistica

description: Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma.


name: parkinsonism with dementia of Guadeloupe

description: Parkinsonism with dementia of Guadeloupe is characterized by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction.


Robinow syndrome

description: Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.


renal hypoplasia, unilateral

description: Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.


renal hypoplasia, bilateral

description: Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.


name: unilateral multicystic dysplastic kidney

description: Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.


bilateral multicystic dysplastic kidney

description: Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.


name: renal tubular dysgenesis due to twin-twin transfusion

description: An acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).


name: sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy


name: pauci-immune glomerulonephritis with ANCA

description: Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated.


name: pauci-immune glomerulonephritis without ANCA

description: Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer.


non-amyloid fibrillary glomerulopathy

description: Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases.


immunotactoid glomerulopathy

description: Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases.


pseudohypoparathyroidism

description: Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).


congenital renal artery stenosis

description: A narrowing of renal arteries that is present since birth.


name: maternal uniparental disomy of chromosome 13

description: Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


name: peripheral resistance to thyroid hormones

description: Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.


absence of the pulmonary artery

description: A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.


name: infectious disorder of the nervous system

description: A infectious disease that involves the nervous system.


central nervous system malformation

description: An abnormality of the nervous system.


46,XY disorder of sex development

description: Differences of sex development in individuals with 46,XY karyotype.


name: autosomal recessive congenital cerebellar ataxia


name: autosomal recessive metabolic cerebellar ataxia


name: autosomal recessive degenerative and progressive cerebellar ataxia


name: autosomal recessive syndromic cerebellar ataxia


internal carotid agenesis

description: Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography.


autosomal anomaly

description: Chromosomal disorder in which the chromosomal anomaly involves an autosome.


gonosome anomaly

description: Chromosomal disorder in which the chromosomal anomaly involves an gonosome. A gonosome is a chromosome responsible for sex determination. In humans and most animals, the sex chromosomes are designated X and Y.


pulmonary valve agenesis

description: Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424


combined dystonia

description: A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism).


Ehlers-Danlos syndrome

description: The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.


infectious encephalitis

description: An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi.


infantile epilepsy syndrome

description: An epilepsy syndrome that occurs between 28 days to one year of life.


childhood-onset epilepsy syndrome

description: A epilepsy syndrome that occurs during childhood.


progressive myoclonus epilepsy

description: A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.


myeloproliferative neoplasm

description: A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)


description: Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS.


dendritic cell tumor

description: A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). The symptoms and severity of the condition depend on the subtype and location of the tumor.


hereditary lipodystrophy

description: An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.


familial partial lipodystrophy

description: Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.


acquired lipodystrophy

description: An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual.


inherited sideroblastic anemia

description: An inherited form of sideroblastic anemia.


autoimmune hemolytic anemia

description: Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia.


pulmonary agenesis

description: An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.


name: vitamin B12- and folate-independent constitutional megaloblastic anemia


secondary polycythemia

description: Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).


name: X-linked syndromic intellectual disability

description: A syndromic intellectual disability with an X-linked mode of inheritance.


skeletal muscle disorder

description: A disease involving the skeletal muscle tissue.


muscular dystrophy

description: Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.


name: acquired idiopathic inflammatory myopathy

description: An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies.


metabolic myopathy

description: A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.


neuromuscular junction disease

description: Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.


hereditary peripheral neuropathy

description: An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.


motor neuron disorder

description: A disease involving the motor neuron.


acquired motor neuron disease

description: An instance of motor neuron disease that is acquired during the lifetime of the individual.


name: cystic malformation of the posterior fossa


pontocerebellar hypoplasia

description: Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.


cryptophthalmia

description: A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.


palpebral epidermal tumor

description: A neoplasm (disease) that involves the skin of eyelid.


benign tumor of palpebral epidermis

description: A benign neoplasm that involves the skin of eyelid.


malignant tumor of palpebral epidermis

description: A cancer that involves the skin of eyelid.


palpebral nevus

description: A melanocytic nevus that involves the skin of eyelid.


conjunctival tumor

description: A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma.


superficial corneal dystrophy

description: The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy.


stromal corneal dystrophy

description: The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.


posterior corneal dystrophy

description: Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.


hereditary macular dystrophy

description: Macular dystrophy that is related to a change in a gene.


vitreoretinal degeneration

description: Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.


autosomal dominant optic atrophy

description: An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.


supranuclear oculomotor palsy

description: Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement.


uveitis

description: An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.


familial atrioventricular septal defect

description: A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.


hypoplastic right heart syndrome

description: Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia.


name: congenital anomaly of the great arteries


congenital pulmonary veins anomaly

description: Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium.


congenital arteriovenous fistula

description: An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth.


name: Noonan syndrome and Noonan-related syndrome


name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15


name: autosomal dominant nocturnal frontal lobe epilepsy

description: A seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.


name: Prader-Willi syndrome due to paternal 15q11q13 deletion


name: Angelman syndrome due to maternal 15q11q13 deletion


name: Angelman syndrome due to paternal uniparental disomy of chromosome 15


isochromosomy Yp

description: Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.


isochromosomy Yq

description: Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.


name: benign childhood occipital epilepsy, Panayiotopoulos type

description: A rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.


name: benign childhood occipital epilepsy, Gastaut type

description: A rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare.


name: familial focal epilepsy with variable foci

description: Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.


chronic myelomonocytic leukemia

description: A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.


name: acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

description: Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy.


name: acute myeloid leukemia with 11q23 abnormalities

description: An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.


name: acute myeloblastic leukemia with maturation

description: An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)


acute undifferentiated leukemia

description: A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.


acute biphenotypic leukemia

description: An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)


name: primary mediastinal large B-cell lymphoma

description: A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)


intravascular large B-cell lymphoma

description: Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis.


anaplastic large cell lymphoma

description: Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.


lymphomatoid papulosis

description: Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.


indolent systemic mastocytosis

description: Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.


name: systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

description: Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).


aggressive systemic mastocytosis

description: Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.


mast cell leukemia

description: Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells.


name: autosomal dominant Emery-Dreifuss muscular dystrophy

description: Autosomal dominant form of Emery-Dreifuss muscular dystrophy.


name: congenital dyserythropoietic anemia type 1

description: Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.


adult pure red cell aplasia

description: Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.


periventricular nodular heterotopia

description: Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.


name: postsynaptic congenital myasthenic syndrome


name: acute inflammatory demyelinating polyradiculoneuropathy

description: An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS).


name: acute motor and sensory axonal neuropathy

description: Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-Barre syndrome (GBS).


acute motor axonal neuropathy

description: Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-Barre syndrome (GBS).


Blake pouch cyst

description: Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development.


name: multiple system atrophy, parkinsonian type

description: Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability).


coloboma of choroid and retina

description: Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.


coloboma of iris

description: A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.


coloboma of eyelid

description: A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.


inverse Marcus-Gunn phenomenon

description: Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.


name: posterior polymorphous corneal dystrophy

description: Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.