hereditary spastic paraplegia 73

Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.


adult-onset citrullinemia type I

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

Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.


hereditary mucoepithelial dysplasia

A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.


non-human animal disease

A disease that occurs in animals.


von Willebrand disease type 2N

Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).


serpiginous choroiditis

Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications.


straddling or overriding tricuspid valve

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.


epidermolysis bullosa simplex 2B, generalized intermediate


pilosebaceous hamartoma

A hamartoma characterized by localized pilosebaceous apparatus malformation.


developmental and epileptic encephalopathy, 85, with or without midline brain defects


8p inverted duplication/deletion syndrome

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.


carnosinemia

Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.


urethra cancer

A malignant neoplasm involving the urethra


testicular Leydig cell tumor

A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics.


X-linked myotubular myopathy

A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.


Cowden syndrome 7

Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.


CNGA3-related retinopathy

A retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene.


split hand-foot malformation 4

Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.


neuronal intranuclear inclusion disease

Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.


auriculoosteodysplasia

Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.


ichthyosis, lamellar, autosomal dominant


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.


benign urethral neoplasm

Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics.


punctate palmoplantar keratoderma type 1

Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..


oculopharyngodistal myopathy

Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.


pulmonary hypertension, primary, 3

Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.


chondrodysplasia with joint dislocations, gPAPP type


qualitative or quantitative defects of nebulin


autosomal recessive osteopetrosis 7

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.


dengue shock syndrome

A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.


encircling double aortic arch

Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.


hematocele of tunica vaginalis testis

Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele.


postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.


renal leiomyoma

A leiomyoma that involves the kidney.


tuberculous salpingitis

An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.


congenital myasthenic syndrome 17

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.


choriocarcinoma of testis

A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.


peroxisome biogenesis disorder due to PEX7 defect

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.


micturation-induced seizures

Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases.


pigmented nodular adrenocortical disease, primary, 4

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.


keratosis pilaris atrophicans faciei

A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area.


microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma


ANE syndrome

ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.


autosomal dominant hypocalcemia

Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.


autosomal dominant osteopetrosis

Autosomal dominant form of osteopetrosis (disease).


Jeavons syndrome

Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.


autosomal recessive spastic paraplegia type 60


Eiken syndrome

Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.


Weismann-Netter syndrome

Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.


autosomal recessive spinocerebellar ataxia 13

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.


cancer of long bone of lower limb

A cancer that involves the hindlimb long bone.


5q14.3 microdeletion syndrome

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.


Wolfram-like syndrome

Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.


Pai syndrome

Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.


atopic IgE-mediated allergic disorder

A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.


Temple-Baraitser syndrome

A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.


idiopathic recurrent pericarditis

A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication.


bacterial meningitis caused by gram-negative bacteria


Stickler syndrome, type I, nonsyndromic ocular


autosomal recessive nonsyndromic hearing loss 84A

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene.


non-amyloid fibrillary glomerulopathy

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.


microphthalmia, isolated, with coloboma 7

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.


renal hypomagnesemia 5 with ocular involvement

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.


aortitis

Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders.


autosomal recessive dyskeratosis congenita 4

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.


Any exudative vitreoretinopathy caused by variants in the TSPAN12 gene.


autosomal recessive nonsyndromic hearing loss 18B

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene.


adrenocortical unresponsiveness to ACTH with postreceptor defect


musculoskeletal system cancer

A malignant neoplasm involving the musculoskeletal system


global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).


cranial nerve neoplasm

Abnormal growth of the cells that comprise the cranial nerves.


filariasis

A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation.


intermediate cell type iris melanoma

Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


Oropouche fever

A disease caused by infection with Oropouche virus.


cerebritis

Inflammation of the cerebrum.


integumentary system cancer

A malignant neoplasm involving the integumental system


benign neoplasm of subglottis

A benign neoplasm that involves the subglottis.


generalized epilepsy with febrile seizures plus, type 7

Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.


vitamin D-dependent rickets, type 2B

Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.


chronic neutrophilic leukemia

A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.


childhood testicular mixed embryonal carcinoma and teratoma

A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.


autosomal dominant limb-girdle muscular dystrophy type 1G

Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.


peroxisome biogenesis disorder 6A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6A manifests phenotypically as Zellweger syndrome.


ectodermal dysplasia alopecia preaxial polydactyly


nephrotic syndrome, type 9

Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.


meningeal tuberculosis

A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis.


acute epiglottitis

Acute form of epiglottitis.


spondyloepiphyseal dysplasia tarda with characteristic facies


testicular non-seminomatous germ cell cancer

A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor.


progressive supranuclear palsy-pure akinesia with gait freezing syndrome

PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.


infantile onset panniculitis with uveitis and systemic granulomatosis


Cestode infectious disease

Infections with true tapeworms of the helminth subclass Cestoda.


spirochaetales infections

Infections with bacteria of the order SPIROCHAETALES.


hereditary spherocytosis type 2

Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.


steroid metabolism disease

A disease that has its basis in the disruption of steroid metabolic process.


post-infectious disorder

A disorder that follows infection but is distinct from the infection itself and its usual manifestations.


immunodeficiency 98 with autoinflammation, X-linked

An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.


eosinophil disorder

A disease or disorder that involves the eosinophil.


alcoholic polyneuropathy

Any disease affecting more than one nerve.


inborn disorder of porphyrin metabolism

An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.


autosomal dominant limb-girdle muscular dystrophy type 1E (DES)

Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.


indeterminate leprosy

A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.


intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).


MYPN-related myopathy

Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.


autosomal recessive nonsyndromic hearing loss 48

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.


Kennedy disease

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.


juvenile Huntington disease

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.


acrofacial dysostosis, Palagonia type

Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.


combined oxidative phosphorylation defect type 11

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.


RAB18 deficiency

Group of diseases encompassing a spectrum of disorders characterized by Warburg Micro Syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf Syndrome phenotypes (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.


congenital heart block

Heart block that occurs on or before 28 days of life.


impaired renal function disease

Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.


carotenemia

Increased serum carotenoids.


nongerminomatous germ cell tumor

A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors.


congenital factor VII deficiency

Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.


epidermolysis bullosa simplex with anodontia/hypodontia


glandular cystitis

A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.


spinocerebellar ataxia type 28

Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.


hemoglobin C-beta-thalassemia syndrome

Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.


neurodevelopmental disorder with central hypotonia and dysmorphic facies


neonatal candidiasis

A fungal infection by any of the Candida species in a newborn infant up to 28 days old.


spinocerebellar ataxia, autosomal recessive 26


Tangier disease

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.


visual cortex disorder

A disease involving the visual cortex.


ocular toxoplasmosis

Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids.


keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.


adrenal gland myelolipoma

A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues.


autosomal recessive epidermolytic ichthyosis


developmental and epileptic encephalopathy 106


vasculitis, lymphocytic, nodular

Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis.


total circumpapillary dystrophy of choroid


developmental and epileptic encephalopathy, 72


retinitis pigmentosa 51

Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.


pericardial tuberculosis

Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart.


vascular brain injury

Damage to the blood vessels of the brain


craniodiaphyseal dysplasia

Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.


diphyllobothriasis

Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells).


inborn mitochondrial metabolism disorder

Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.


Melhem-Fahl syndrome

Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report.


renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss


Charcot-Marie-Tooth disease axonal type 2N

Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.


neurodevelopmental disorder with language delay and variable cognitive abnormalities


autosomal dominant complex spastic paraplegia type 9B


neurovascular disorder

A disorder of the nervous system related to a vascular etiology.


nemaline myopathy 10

Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.


spondyloepimetaphyseal dysplasia, Isidor type


lissencephaly 4

Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.


thyrotoxic periodic paralysis

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.


hypoglossal nerve neoplasm

A neoplasm involving a hypoglossal nerve.


acute myeloid leukemia, t(11;19)(q23;p13.1)

Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.)


Charcot-Marie-Tooth disease recessive intermediate B

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.


MME-related autosomal dominant Charcot Marie Tooth disease type 2


mitochondrial complex 4 deficiency, nuclear type 15


acrofacial dysostosis Cincinnati type

Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.


Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.


parapsoriasis

Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids.


Warburg micro syndrome 2

Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.


jugular foramen meningioma

A meningioma that affects the jugular foramen.


Alzheimer disease 19

Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.


asphyxiating thoracic dystrophy 1

An asphyxiating thoracic dystrophy associated with variation in the region 15q13.


syndromic X-linked intellectual disability Snyder type

Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.


autosomal dominant nonsyndromic hearing loss 51

An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.


A newly discovered disorder caused by a change (variant or mutation) in the TCF7L2 gene. This mutation may be responsible for developmental delays in childhood, intellectual disability, autism, myopia, ADHD, abnormal physical features and other problems. There is a wide spectrum of severity for individuals affected with TRND. Many of the symptoms of TRND overlap with other neurodevelopmental disorders. TRND must be diagnosed with a genetic test and cannot be diagnosed by symptoms alone.


uterine corpus perivascular epithelioid cell tumor

A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.


isolated growth hormone deficiency type IB

An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.


contact dermatitis due to nickel

A form of allergic contact dermatitis that results from exposure to nickel


immunodeficiency 109 with lymphoproliferation


combined oxidative phosphorylation deficiency 44


arterial thoracic outlet syndrome

Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia.


schizophrenia 8

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.


ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.


neurodevelopmental disorder with infantile epileptic spasms


coxoauricular syndrome

Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.


severe achondroplasia-developmental delay-acanthosis nigricans syndrome

A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).


chromosome 17p13.3 duplication syndrome

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.


adult acne

Acne that occurs in an adult.


isolated cleft lip

Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.


smooth muscle tumor

A benign or malignant myomatous neoplasm arising from smooth muscle.


pediatric extraocular retinoblastoma

Retinoblastoma during childhood that has spread beyond the eye.


polyradiculopathy

A radiculopathy that is present in more than one nerve.


corticosterone methyloxidase type 1 deficiency


Binder syndrome

A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.


neurodevelopmental disorder with cerebellar atrophy and motor dysfunction


radio-renal syndrome

Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.


autosomal dominant Charcot-Marie-Tooth disease type 2M

Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.


inborn disorder of lysosomal amino acid transport


hearing loss, sensorineural, autosomal-mitochondrial type


Phelan-McDermid syndrome

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.


childhood malignant neoplasm

A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor).


myopathy, congenital, progressive, with scoliosis


benign partial epilepsy of infancy with complex partial seizures

Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal.


muscular dystrophy, limb-girdle, autosomal recessive 27


psammomatous meningioma

A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.


double outlet right ventricle with subaortic or doubly committed ventricular septal defect


chromosome 22q11.2 deletion syndrome, distal

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors.


mitochondrial complex 1 deficiency, nuclear type 9


nephronophthisis 15

Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.


multiple synostoses syndrome

Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.


synchronous multifocal osteogenic sarcoma

A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis.


ataxia-telangiectasia with generalized skin pigmentation and early death


chromosome 16p13.3 duplication syndrome

16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.


osteogenesis imperfecta type 14

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.


spermatogenic failure 13

Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.


alcohol-related disorders

Disorders related to or resulting from abuse or mis-use of alcohol.


acute myeloid leukemia, FLT3 internal tandem duplication

Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.)


combined oxidative phosphorylation deficiency 55


acute salpingitis

Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy.


microcephaly 14, primary, autosomal recessive

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.


choroid cancer

A malignant neoplasm involving the optic choroid.


ceroid lipofuscinosis, neuronal, 4 (Kufs type)

A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome


necrobiosis lipoidica

Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring.


benign childhood occipital epilepsy, Gastaut type

Benign childhood occipital epilepsy, Gastaut type is 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.


anterior segment dysgenesis 8

Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.


spinal muscular atrophy, type IV

Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


Charcot-Marie-Tooth Disease, axonal, type 2GG

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.


autosomal dominant nonsyndromic hearing loss 44

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.


secondary mast cell activation syndrome

Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells.


intellectual disability-balding-patella luxation-acromicria syndrome

Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.


intellectual disability, autosomal dominant


Norum disease

A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.


primary essential cutis verticis gyrata

Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.


autosomal recessive spinocerebellar ataxia 18

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.


pulmonary hypertension

Increased pressure within the pulmonary circulation due to lung or heart disorder.


Bicervical bicornuate uterus with patent cervix and vagina


primary ciliary dyskinesia 3

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.


cancer or benign tumor

Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.


kyphomelic dysplasia

Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.


autonomic nervous system benign neoplasm


complex cortical dysplasia with other brain malformations 1

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.


lymphoepithelial-like carcinoma

Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ.


frontal sinusitis

An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus.


nervous system benign neoplasm

Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).


acute poisoning by drugs with membrane-stabilizing effect

Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine.


epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency


mitochondrial complex 4 deficiency, nuclear type 17


myofibrillar myopathy 2

Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.


inborn disorder of glycine and serine metabolism

A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of glycine and/or serine.


intellectual disability, autosomal dominant 38

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.


capillary malformation-arteriovenous malformation 2


This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.


Perry syndrome

Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.


autosomal recessive ataxia due to PEX16 deficiency


mercury poisoning

Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity.


autotopagnosia

An agnosia that is a loss of the ability to orient parts of the body.


vulvar leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells.


thrombocythemia 2

Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene.


periosteal chondroma

A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.


sclerosteosis 1

Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.


guttate psoriasis

Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy.


voyeurism

A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity.


Charcot-Marie-Tooth disease type 4K

SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).


pleural tuberculosis

Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.


peritoneal solitary fibrous tumor

A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels.


Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.


paragangliomas 1

Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.


osteosarcoma

A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.


Kummell disease

A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury.


pemphigus vulgaris

Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%).


nephrotic syndrome, type 13

Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.


epidermolysis bullosa, junctional 3B, severe


autosomal recessive spondylometaphyseal dysplasia, Megarbane type

Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.


cutaneous anthrax

An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center.


fibroepithelial polyp of urethra

A benign polypoid lesion of mesodermal origin that arises from the urethra.


myxoid glioneuronal tumor

A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.


photosensitive epilepsy

An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.


hypertrophic osteoarthropathy, primary, autosomal dominant


coronary artery disease, autosomal dominant, 1

Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.


congenital pulmonary airway malformation type 1


Leri-Weill dyschondrosteosis

Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.


mitochondrial DNA depletion syndrome 6 (hepatocerebral type)


Neuhauser anomaly

Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).


ring chromosome 4

Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.


diffuse leptomeningeal glioneuronal tumor

A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma.


primary hyperoxaluria type 3

Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.


proliferative vitreoretinopathy

Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes.


narcolepsy 7

Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.


childhood electroclinical syndrome

A electroclinical syndrome that occurs during childhood.


postpartum depression

A type of clinical depression that occurs after childbirth.


spastic paraplegia 79A, autosomal dominant, with ataxia


annular lichen planus

Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions.


autoinflammatory syndrome with immunodeficiency

An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.


attenuated Chédiak-Higashi syndrome

Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.


spastic ataxia 1

Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene.


self-limited familial infantile epilepsy

This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.


cone-rod dystrophy 6

Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.


acquired peripheral neuropathy

An instance of peripheral neuropathy that is acquired during the lifetime of the individual.


X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.


leg dermatosis

A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)


Joubert syndrome 16

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.


distal trisomy 6p

Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.


endemic goiter

Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.


neurodevelopmental disorder with visual defects and brain anomalies


essential fructosuria

Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.


dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).


autosomal recessive nonsyndromic hearing loss 13

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.


parietal foramina 1

Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.


skull base neoplasm

A benign or malignant neoplasm that affects the skull base.


PAX5-related B lymphopenia and autism spectrum disorder

PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.


acute myeloid leukemia, t(6;9)(p23;q34.1)

Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)


lacrimal apparatus disorder

A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus.


chromosome 17 disorder

Chromosomal disorder in which chromosome 17 is affected.


spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome


myoclonic dystonia 26

Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.


high-grade neuroendocrine carcinoma of the corpus uteri

High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.


intellectual disability, autosomal recessive 63


idiopathic acute transverse myelitis

Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.


partial duplication of the long arm of chromosome 14


osteogenesis imperfecta type 7

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene.


disorder of peroxisomal transporter

Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.


acute myeloid leukemia, CEBPA gene mutation

Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)


ergotism

Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine.


Ackerman syndrome

Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.


altitude sickness

Multiple symptoms associated with reduced oxygen at high altitude.


distal myopathy with vocal cord weakness

Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.


tetramelic monodactyly

Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.


intellectual disability, autosomal dominant 3

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.


classic medulloblastoma

Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.


ketoacidosis due to monocarboxylate transporter-1 deficiency


Liddle syndrome 1

Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene.


combined oxidative phosphorylation deficiency 42


Arterivirus infectious disease

Infections caused by viruses of the family arteriviridae.


metachromatic leukodystrophy

A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.


herpetiform pemphigus

Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.


Leydig cell hypoplasia, type 1

Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.


Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.


nemaline myopathy 7

Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.


fascioloidiasis

Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.


congenital alveolar dysplasia due to TBX4

Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.


developmental and epileptic encephalopathy 110


intellectual disability, X-linked 101

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.


epidermolysis bullosa simplex 1A, generalized severe

A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.


locked-in syndrome

Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking.


myopathy caused by variation in FKRP

Any myopathy in which the cause of the disease is a variation in the FKRP gene.


toxic maculopathy due to antimalarial drugs

Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.


lumbar plexus neoplasm

A neoplasm (disease) that involves the lumbar nerve plexus.


developmental and epileptic encephalopathy 109


pestivirus infectious disease

Infections with viruses of the genus pestivirus, family flaviviridae.


specific granule deficiency 1

Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.


congenital stationary night blindness 1H

Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.


mitochondrial complex 1 deficiency, nuclear type 25


elastoderma

Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.


multiple congenital anomalies/dysmorphic syndrome


herpes simplex type 2 infectious disease

A disease caused by infection with herpes simplex type 2.


transient congenital hypothyroidism due to maternal factor


craniosynostosis with ocular abnormalities and hallucal defects


composite lymphoma

Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.


acute maxillary sinusitis

Acute form of maxillary sinusitis.


autosomal recessive ataxia due to PEX10 deficiency


autosomal recessive limb-girdle muscular dystrophy

Autosomal recessive form of limb-girdle muscular dystrophy.


hemoglobin E-beta-thalassemia syndrome

Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.


cylindrical spirals myopathy

Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.


immunodeficiency, common variable, 6

Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.


spondyloepimetaphyseal dysplasia, Bieganski type

A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.


chronic gingivitis

Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.


adult-onset nemaline myopathy

Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.


16q24.3 microdeletion syndrome

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.


microphthalmia, isolated, with coloboma 10

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene.


multiple synostoses syndrome 1

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.


autosomal dominant spastic ataxia

Autosomal dominant form of spastic ataxia.


amelanotic melanoma

A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.


focal facial dermal dysplasia type IV

Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.


cerebral cavernous malformation

A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.


familial idiopathic torsion dystonia

An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.


central sleep apnea caused by high altitude


spondylocostal dysostosis 2, autosomal recessive


juxtaposition of the atrial appendages

Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.


atypical pantothenate kinase-associated neurodegeneration


facial paresis, hereditary congenital, 3

Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.


myoclonic cerebellar dyssynergia

A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)


familial apolipoprotein gene cluster deletion syndrome


staphylococcal necrotizing pneumonia

Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.


basal ganglia cerebrovascular disorder

A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).


creatine biosynthetic process disease

A disease that has its basis in the disruption of creatine biosynthetic process.


dipetalonemiasis

A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids.


Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1


conjunctival nevus

A benign melanocytic neoplasm that arises from the conjunctiva.


sulfur metabolism disease

A disease that has its basis in the disruption of sulfur compound metabolic process.


double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis


hyperhomocysteinemia

A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents.


vernal conjunctivitis

Inflammation of the cornea that is seasonal in nature.


psychogenic movement disorders

Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype.


scleromyxedema without monoclonal gammopathy

Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.


paragangliomas 3

Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.


ectopia lentis-chorioretinal dystrophy-myopia syndrome

Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.


visceral leishmaniasis

A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi.


retinitis pigmentosa 69

Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.


isolated microphthalmia 2

Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.


hypomyelinating leukodystrophy 13

Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.


ectodermal dysplasia 13, hair/tooth type


Charcot-Marie-Tooth disease axonal type 2K

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.


spinocerebellar ataxia type 11

Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs.


Lafora disease

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.


Sengers syndrome

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.


Pasteurella multocida infectious disease


Ureaplasma urethritis

Infections with bacteria of the genus ureaplasma.


primary cutaneous peripheral T-cell lymphoma not otherwise specified


lethal occipital encephalocele-skeletal dysplasia syndrome

Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.


chemotherapy-induced alopecia

Hair loss as a result of chemotherapy treatment.


primary ciliary dyskinesia 35

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.


nasal cavity lymphoma

A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.


brachyolmia

Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.


lipodermatosclerosis

Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.


non-syndromic polydactyly

A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.


Newcastle disease

A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.


familial cutaneous collagenoma

Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.


varicella zoster infection

A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.


DKC1-related disorder

Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.


congenital nonspherocytic hemolytic anemia

Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.


familial pseudohyperkalemia

An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.


IgG4-related ophthalmic disorder

A IgG4-related disease that involves the eye.


Singleton-Merten syndrome 2

Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.


Melnick-Needles syndrome

A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.


lymphedema-atrial septal defects-facial changes syndrome

Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.


medulloblastoma WNT activated

A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.


wooly hair, autosomal recessive 1, with or without hypotrichosis


palmoplantar keratoderma i, striate, focal, or diffuse


chancre

The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.


male genital tuberculosis

Mycobacterium infections of the male reproductive tract (genitalia, male).


acute myeloid leukemia with BCR-ABL1

A rare, de novo acute myeloid leukemia in which the blasts harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.


autosomal recessive nonsyndromic hearing loss 91

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.


hereditary cerebellar ataxia

Cerebellar ataxia that is transmitted from parent to child.


autosomal recessive nonsyndromic hearing loss 16

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene.


adult acute lymphoblastic leukemia

An acute lymphoblastic leukemia occurring during adulthood.