orofaciodigital syndrome I

A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.


tooth and nail syndrome

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Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.


X-linked retinoschisis

A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.


tarsal tunnel syndrome

Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.


Ehlers-Danlos syndrome

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


von Hippel-Lindau disease

A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.


The reemergence of hemophagocytic lymphohistiocytosis after a period of remission.


neoplastic syndrome

A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.


UV-sensitive syndrome 1

Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.


Aicardi-Goutieres syndrome 5

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.


immunodeficiency 11b with atopic dermatitis

An autosomal dominant condition caused by mutation(s) in the CARD11 gene, encoding caspase recruitment domain-containing protein 11. It is characterized by the onset of moderate to severe atopic dermatitis in early childhood, defects in T-cell activation, increased IgE, and eosinophilia.


autosomal dominant Kenny-Caffey syndrome

An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.


Rett syndrome, congenital variant

An autosomal dominant condition caused by mutation(s) in the FOXG1 gene, encoding forkhead box protein G1. It is the most severe form of Rett syndrome, and typically manifests within the first three months of life.


osteoporosis-pseudoglioma syndrome

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.


autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.


congenital myasthenic syndrome 11

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


Usher syndrome type 2C

A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.


hyper-IgM syndrome type 1

The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.


spondyloepimetaphyseal dysplasia, sponastrime type

A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.


Carney-Stratakis syndrome

Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.


ataxia telangiectasia

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.


Prader-Willi syndrome

Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.


47,XYY syndrome

47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.


Crigler-Najjar syndrome

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.


TERC Deficiency

A condition of decreased or absent presence of telomerase RNA component. Deficiency of telomerase RNA component is associated with autosomal dominant dyskeratosis congenita 1, telomere-related pulmonary fibrosis, and bone marrow failure 2.


COVID-19–associated multisystem inflammatory syndrome in children

A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.


Freeman-Sheldon syndrome

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.


Hallermann-Streiff syndrome

Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.


Renpenning syndrome

An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.


Chediak-Higashi syndrome

ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.


aneurysm-osteoarthritis syndrome

Loeys-Dietz syndrome caused by mutation(s) in the SMAD3 gene, encoding mothers against decapentaplegic homolog 3.


Bartter disease type 1

An autosomal recessive subtype of Bartter syndrome caused by mutation(s) in the SLC12A1 gene, encoding solute carrier family 12 member 1.The onset occurs in the antenatal period, and may be characterized by polyhydramnios, premature birth, failure to thrive and mental retardation. Clinical variability in the severity of symptoms exists and an essential feature of antenatal forms of Bartter syndrome is marked hypercalciuria.


ectodermal dysplasia and immune deficiency

A rare disorder caused by mutations either in the IKBKG gene resulting in an X-linked recessive inheritance pattern or in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections.


CINCA syndrome

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.


Organic mood disorder

A mental disorder caused by intrinsic disease which is characterized by persistent alterations in mood that are directly attributable to the disease itself rather than a response to knowledge of the disease or other co-morbidity. It may be broadly classified as a depressive or bipolar disorder due to a general medical condition.


Ehlers-Danlos syndrome, classic type, 1

Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.


Menkes disease

A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.


Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.


Tolosa-Hunt syndrome

Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.


Alkylating Agent-Related Myelodysplastic Syndrome

A disorder seen following cancer chemotherapy. It is the most common cause of therapy-related myelodysplastic syndromes. It typically manifests several years after initiation of single or multi-agent chemotherapy with alkylators. Mutagenic potential of alkylating agents is believed to be age and cumulative dose-dependent. Deletions in chromosomes 5 and 7 are associated with susceptibility to this disorder. Clinical signs may include fatigue, dyspnea, bruising and frequent infections. Clinical course may progress to bone marrow failure or acute myeloid leukemia that is refractory to treatment. Prognosis is dismal with survivability usually less than one year.


chromosome 1p36 deletion syndrome

A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.


holoprosencephaly 4

A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.


familial hemophagocytic lymphohistiocytosis type 1

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.


hypogonadotropic hypogonadism 1 with or without anosmia

The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.


Immunodeficiencies Affecting Cellular and Humoral Immunity - Combined Immune Deficiency

A group of immunodeficiency disorders that include combined immunodeficiencies (CIDs) generally less profound than SCID.


chronic granulomatous disease

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.


SAMD9-Associated Familial Myelodysplastic Syndrome

A familial myelodysplastic syndrome caused by inherited mutations in the SAMD9 gene.


Primary immune deficiency disorder

Immunodeficiency disease that arises independent of another pathologic process, disease, or injury.


Refractory Neutropenia

A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic neutrophils in the bone marrow or the peripheral blood.


nail-patella syndrome

A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.


Feminization

The development of secondary female sex characteristics in males.


muscular dystrophy-dystroglycanopathy, type A

A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retardation, developmental delays, and brain and eye abnormalities.


subclavian steal syndrome

An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention.


Rienhoff syndrome

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.


Fraser syndrome

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.


MELAS syndrome

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.


X-linked lymphoproliferative disease due to XIAP deficiency

A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.


trichothiodystrophy 3, photosensitive

An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the GTF2H5 gene, encoding general transcription factor IIH subunit 5.


Somnolence syndrome

An uncommon subacute encephalopathy seen following cranial irradiation for cerebral neoplasms. Clinical signs manifest several weeks after treatment and include drowsiness, fatigue, lethargy and slowed mental processing. Clinical course is usually benign, self-limited and independent of radiotherapy dose.


EEC syndrome

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).


Jackson-Weiss syndrome

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.


cold-induced sweating syndrome 2

Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.


capillary malformation-arteriovenous malformation syndrome

This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.


Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.


Aarskog-Scott syndrome, X-linked

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.


FG syndrome 1

Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.


mucopolysaccharidosis type 3D

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.


Multisystem inflammatory syndrome in adults

A rare syndrome found in adults with positive test results for SARS-CoV-2 by polymerase chain reaction or antibody assays indicating recent infection that is marked by cardiovascular, gastrointestinal, dermatologic, and neurologic symptoms without severe respiratory illness. The most common signs and symptoms that have been reported to date include fever, low blood pressure, abdominal pain, vomiting, diarrhea, neck pain, rash, chest pain, and tiredness not attributable to other infections.


Iatrogenic Contrasexual Pubertal Development

Contrasexual pubertal development caused by medical intervention.


Atypical Hemolytic Uremic Syndrome-4

An autosomal dominant subtype of atypical hemolytic uremic syndrome caused by mutation(s) in the CFB gene, encoding complement factor B.


Angelman syndrome

A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.


Vici syndrome

A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.


complement component C1r/C1s deficiency

Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.


Overlap syndrome

An autoimmune, connective tissue disorder in which the patient exhibits features from two or more diseases. These typically include systemic sclerosis, dermatomyositis, polymyositis, rheumatoid arthritis, systemic lupus erythematosus, and Sjogren syndrome; in pediatrics the respective pediatric entities are encountered.


Iatrogenic Cushing's disease

Cushing syndrome as a result of increased glucocorticoids due to medical therapy.


multiple endocrine neoplasia type 4

Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.


Birt-Hogg-Dube syndrome

Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.


cat-eye syndrome

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.


complement component 5 deficiency

A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.


Perinatal jaundice due to inspissated bile syndrome

Yellow pigmentation of the skin, mucous membranes and eyes due to hyperbilirubinemia caused by inspissated bile plugs in the bile ducts during the perinatal period.


Andersen-Tawil syndrome

Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.


Retroperitoneal Pain Syndrome

A pain syndrome characterized by epigastric and mid-back pain, typically experienced as a dull or aching pain. Frequent causes include pancreatic cancer and retroperitoneal lymphadenopathy.


drug hypersensitivity syndrome

A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs.


Adult Myelodysplastic Syndrome

Myelodysplastic syndrome that occurs in adulthood.


Usher syndrome type 2

A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.


arakawa syndrome 2

A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.


ring chromosome 20

Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present.


7q11.23 microduplication syndrome

7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.


Beare-Stevenson cutis gyrata syndrome

A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.


Froelich syndrome

Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.


cardio-renal syndrome

A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.


WAGR syndrome

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.


Ectopic renin secretion

A syndrome characterized by abnormal secretion of renin in conjunction with neoplastic growth occurring anywhere in the body.


Maffucci syndrome

Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.


mucopolysaccharidosis type 3

Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.


brown-Vialetto-van Laere syndrome 2

Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.


Aicardi-Goutieres syndrome 1

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.


Miller Fisher syndrome

An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.


DOCK2 deficiency

An autosomal recessive combined immunodeficiency caused by mutation(s) in the DOCK2 gene, encoding dedicator of cytokinesis protein 2. It is characterized by combined immunodeficiency, primarily affecting T-cells, with more variable defects in B-cell and NK-cell function, resulting in viral and bacterial infections that may lead to death in severe cases.


Brown-Sequard syndrome

Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause.


inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.


Ehlers-Danlos syndrome, musculocontractural type 1

An autosomal recessive form of Ehlers-Danlos syndrome caused by mutation(s) in the CHST14 gene, encoding carbohydrate sulfotransferase 14.


central sleep apnea syndrome

A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.


combined immunodeficiency due to LRBA deficiency

An autosomal recessive common variable immunodeficiency caused by mutation(s) in the LRBA gene, encoding lipopolysaccharide-responsive and beige-like anchor protein. It is characterized by recurrent infections and the development of autoimmune disorders.


exfoliation syndrome

An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.


Aicardi-Goutieres syndrome 2

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.


complement component 2 deficiency

Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.


tethered spinal cord syndrome

A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.


mucopolysaccharidosis type 2

A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.


tuberous sclerosis 2

Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).


Proteus syndrome

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.


Laron syndrome

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.


multiple endocrine neoplasia type 1

Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.


MHC class II deficiency

Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.


Fanconi anemia complementation group C

Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.


McCune-Albright syndrome

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).


Sunset Syndrome

Decentration, or malposition of intraocular lens; zonular dehiscence or lens malposition caused by zonular or parsplana fixation.


monoclonal mast cell activation syndrome

A rare immunological disorder characterized by mast cell activation in the absence of cutaneous findings. Bone marrow biopsy shows the presence of monoclonal mast cells that carry the D816V KIT gene mutation and/or express CD25 while not meeting the diagnostic requirements for systemic mastocytosis. Patients may present with recurrent symptoms, including hypotension, flushing, headache, abdominal cramping, nausea, diarrhea, arrhythmias, and bronchoconstriction. Symptoms may be triggered by eating, exertion, environmental conditions, emotional stress, or insect stings, and treatment may include antihistamines.


Myelodysplastic Syndrome with Somatic Mutations

A myelodysplastic syndrome characterized by the presence of a point mutation in one of the following genes, TP53, EZH2, ETV6, RUNX1, and ASXL1. These gene mutations are independent predictors of poor prognosis.


Nicotine withdrawal

A condition which occurs following suspension of nicotine use. Clinical features may include nicotine craving, irritability, anxiety, depression and increased appetite. The onset of symptoms may be rapid with severity proportional to length and amount of nicotine use. Unsuccessful management of symptoms may prompt a return to nicotine use.


Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

An autosomal recessive condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is exceptionally rare, characterized by craniosynostosis, radiohumeral synostosis, genital anomalies, and impaired steroidogenesis.


Recurrent Cushing Disease

The reemergence of Cushing disease after a period of remission.


antiphospholipid syndrome

A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.


Silver-Russell syndrome

Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.


monosomy 7 myelodysplasia and leukemia syndrome 1

An inherited condition caused by autosomal dominant mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. The condition is characterized by an increased risk of developing myelodysplastic syndrome and acute myelogenous leukemia.


Schuurs-Hoeijmakers syndrome

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.


long QT syndrome 2

An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


Holt-Oram syndrome

Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.


shone complex

A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis.


Perlman syndrome

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.


immunodeficiency 28

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.


Majeed syndrome

Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.


Netherton syndrome

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.


Kenny-Caffey syndrome

A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.


autoimmune lymphoproliferative syndrome type 2A

A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.


Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.


apert syndrome

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.


VEXAS syndrome

An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death.


Cockayne syndrome

A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.


Fanconi anemia complementation group L

Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.


hyper-IgM syndrome type 2

A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.


trichorhinophalangeal syndrome type II

Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.


Pallister-Hall syndrome

Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.


paraneoplastic syndrome

A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.


Myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia

A myelodysplastic syndrome characterized by bi-cytopenia or pancytopenia, dysplastic changes in 10% or more of the cells in two or more of the myeloid cell lines, and 15% or more ring sideroblasts in the bone marrow.  (WHO, 2001)


Ectopic aldosterone secretion

A syndrome characterized by abnormal secretion of aldosterone in conjunction with neoplastic growth occurring anywhere in the body.


mosaic variegated aneuploidy syndrome 2

Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.


long QT syndrome 1

An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


48,XXXY syndrome

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


congenital myasthenic syndrome 4C

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.


Recurrent Endogenous Cushing Syndrome

The reemergence of endogenous Cushing syndrome after a period of remission.


DPAGT1-congenital disorder of glycosylation

DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).


growth hormone insensitivity syndrome

Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.


Myelodysplastic Syndrome, Unclassifiable, with Single Lineage Dysplasia

Myelodysplastic syndrome, unclassifiable characterized by unilineage dysplasia and associated pancytopenia.


Coffin-Lowry syndrome

A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.


Schwartz-Jampel syndrome

A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).


Loeys-Dietz syndrome 2

A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.


Aicardi-Goutieres syndrome 7

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.


hyper-IgM syndrome type 3

A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.


UV-sensitive syndrome 3

Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.


SAMD9L-Associated Familial Myelodysplastic Syndrome

A familial myelodysplastic syndrome caused by inherited mutations in the SAMD9L gene.


ectodermal dysplasia and immunodeficiency 1

An X-linked recessive condition caused by mutation(s) in the IKBKG gene, encoding NF-kappa-B essential modulator (NEMO). It is characterized by the onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. Affected individuals may present with ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair.


C4 Deficiency

Lack of production of functional C4 protein, due to a genetic defect requiring homozygous loss of both the C4A and C4B genetic paralogs. Approximately 75% of patients with a C4 deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.


Severe Combined Immunodeficiency due to RAG1 Deficiency

An inherited condition caused by mutation(s) in the RAG1 gene, encoding V(D)J recombination-activating protein 1. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative.


46,XY Disorder of Androgen Action

Conditions in 46,XY individuals in which androgens are produced in typical amounts, but tissue response to androgens is reduced.


telomere syndrome

Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.


neurocutaneous syndrome

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.


Acquired Feminization

The development of secondary female sex characteristics in males due to extrinsic factors.


Diamond-Blackfan anemia 9

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.


Ectopic calcitonin production

A syndrome characterized by abnormal secretion of calcitonin in conjunction with neoplastic growth occurring anywhere in the body.


paraneoplastic polyneuropathy

A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure.


Coffin-Siris syndrome

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.


Potocki-Lupski syndrome

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.


rhabdoid tumor predisposition syndrome 1

Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.


Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.


Stickler syndrome

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).


Muenke syndrome

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.


Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.


Usher syndrome

A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.


split hand-foot malformation 1

Split-hand/foot malformation mapped to chromosome 7q21.3


Postpericardiotomy Syndrome

An inflammatory disorder of the pericardium and pleura seen as a post-operative complication of cardiovascular surgery.


DiGeorge syndrome

A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.


Hemophagocytic syndrome that is associated with viral infection.


A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues.


Neonatal Opiate Withdrawal Syndrome

A constellation of neurobehavioral features observed in a neonate following cessation or reduction of postnatal exposure to opioids.


holoprosencephaly 5

Holoprosencephaly associated with mutations in the ZIC2 gene.


Treacher-Collins syndrome

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.


calciphylaxis

Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.


mucopolysaccharidosis type 4

Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.


Timothy syndrome

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.


ring chromosome 14

Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.


lateral medullary syndrome

A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking.


Frasier syndrome

Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.


Potocki-Shaffer syndrome

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).


activated PI3K-delta syndrome

An autosomal dominant primary immunodeficiency caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by recurrent infections in the lungs, paranasal sinuses, and ears; lymphopenia, particularly B-cells and T-cells.


Cole-Carpenter syndrome

An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).


GATA2 deficiency with susceptibility to MDS/AML

A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).


Diamond-Blackfan anemia 3

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.


The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.


diaphyseal medullary stenosis-bone malignancy syndrome

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).


reticular dysgenesis

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.


Immunodeficiency of Unknown Origin

A condition of compromised immune function resulting from an uncharacterized defect.


immunodeficiency 36

An autosomal dominant condition caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is characterized by a heterogenous phenotype, including recurrent respiratory infections, lymphoproliferation, and antibody deficiency. There is an increased likelihood of development of B-cell lymphoma.


Light Chain Fanconi Syndrome

Fanconi syndrome that is caused by light chain deposition resulting in a proximal tubulopathy.


holoprosencephaly 2

A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.


Endocrine Syndrome

A group of signs, symptoms, and clinicopathological characteristics that result from the pathologic function of one or more endocrine organs.


cleidocranial dysplasia 1

A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.


Ehlers-Danlos syndrome, classic type, 2

Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.


Roberts syndrome

Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.


MPDU1-congenital disorder of glycosylation

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.


orofacial cleft 1

Cleft lip with or without cleft palate mapped to chromosome 6p24.


mucopolysaccharidosis type 3A

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.


Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.


Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene.


Organic delusional disorder

A mental disorder caused by intrinsic disease which is characterized by persistent or recurrent irrational beliefs. Consciousness and memory are not affected. It may be broadly classified as a psychotic disorder due to a general medical condition.


Landau-Kleffner syndrome

Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS.


cartilage-hair hypoplasia

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.


X-linked Ehlers-Danlos syndrome

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.


acute inflammatory demyelinating polyradiculoneuropathy

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


Kallmann syndrome

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.


Diamond-Blackfan anemia 11

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.


Roberts-SC phocomelia syndrome

A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.


Ectopic Parathormone Secretion Syndrome

A syndrome characterized by abnormal secretion of parathyroid hormone in conjunction with neoplastic growth occurring anywhere in the body.


Sjogren-Larsson syndrome

A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.


Capgras syndrome

A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all.


autosomal recessive agammaglobulinemia

A genetically heterogenous group of primary immunodeficiencies characterized by low or absent circulating antibodies/or and low or absent B-cells.


Loeys-Dietz syndrome 1

A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.


alpha 1-antitrypsin deficiency

Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.


familial rhabdoid tumor

A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.


ring chromosome 22

Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.


Liddle syndrome

A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.


Organic personality disorder

A mental disorder caused by intrinsic disease which is characterized by persistent alteration of a known behavioral pattern. Changes in emotional stability, motivation, judgment or impulse control are usually noted. It is broadly classified as a personality change due to a general medical condition.


Loeys-Dietz syndrome

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.


selective IgE deficiency disease

A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases.


In Utero Drug Withdrawal

Drug withdrawal symptoms in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence.


Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.


ectopic hormone secretion syndrome associated with neoplasia

Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body.


apparent mineralocorticoid excess

Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.


diethylstilbestrol syndrome

Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.


Cold-induced sweating syndrome 1

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1

Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.


Diamond-Blackfan anemia 4

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.


selective IgM deficiency

Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement.


Bloom syndrome

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.


Congenital Disorder of Natural Immunity

A broad classification of inherited disorders presenting at birth that affect the initial immunologic response to infection. In these disorders, the primary role of innate immunity to detect and neutralize pathogens which the individual has not been previously exposed is decreased or ineffective.


PMM2-congenital disorder of glycosylation

The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.


Fanconi anemia complementation group E

Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.


autosomal recessive multiple pterygium syndrome

A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.


type 3 autoimmune lymphoproliferative syndrome

A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.


ALG3-congenital disorder of glycosylation

A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).


Richter syndrome

Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm.


Melkersson-Rosenthal syndrome

The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.


Multiple Endocrine Neoplasia Type 5

An inherited neoplastic syndrome caused by mutations in the MYC-associated factor X (MAX) gene. It is associated with the development of paragangliomas/pheochromocytomas, pituitary neuroendocrine tumors, and parathyroid adenomas. Renal cell carcinomas, squamous cell carcinomas, breast carcinomas, lung carcinomas, and endometrial carcinomas have also been reported.


myelodysplastic syndrome with multilineage dysplasia

Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.


Hemophagocytic lymphohistiocytosis that is resistant to treatment.


Meigs syndrome

A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass.


familial cold autoinflammatory syndrome 2

An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.


carcinoid syndrome

A syndrome characterized by signs and symptoms caused by advanced carcinoid tumors. They include skin flushing, diarrhea, wheezing, and tachycardia.


Perforin Deficiency

A condition of decreased or absent presence of perforin. Deficiency of this protein is associated with T-cell lymphoblastic lymphoma, aplastic anemia, hemophagocytic lymphohistiocytosis familial type 2, autoimmune lymphoproliferative syndrome and other lymphoproliferative disorders, including various forms of lymphoma.


Neonatal Drug Withdrawal

A constellation of neurobehavioral features observed following cessation or reduction of antenatal or postnatal drug exposure.


familial episodic pain syndrome with predominantly lower limb involvement

A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.


autosomal recessive Kenny-Caffey syndrome

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.


Uveitis-glaucoma-hyphema syndrome

Clinical triad of uveitis, glaucoma, and hyphema (UGH), especially associated with the early anterior chamber intraocular lens (IOL).Glaucoma is believed to be caused by movement of the IOL against the iris causing release of inflammatory and red blood cell debris, which obstruct the trabecular meshwork. The haptic also may cause direct damage to the trabecular meshwork contributing to the glaucoma. Incidence of UGH is dependent on both surgical methodology applied in the cataract population and type of IOL used. UGH is particularly common if metal clip lenses have been used. Components of the condition may be reversed if the offending IOL is removed before permanent damage has occurred.


Cri-du-chat syndrome

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.


androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).


Myelodysplastic Syndrome with Excess Blasts and Fibrosis

Myelodysplastic syndrome with excess blasts associated with significant reticulin fibrosis of the bone marrow.


iridocorneal endothelial syndrome

Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler syndrome, Cogan-Reese syndrome and essential iris atrophy, affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications


immunodeficiency 27A

A genetic condition caused by mutation(s) in the IFNGR1 gene, encoding interferon gamma receptor 1, resulting in impairment of interferon-gamma mediated immunity. Clinically, it is characterized by predisposition to illness caused by moderately virulent mycobacterial species.


CHARGE syndrome

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).


cardiospondylocarpofacial syndrome

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.


Cornelia de Lange syndrome

A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.


ataxia-pancytopenia syndrome

A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.


ring chromosome 21

Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.


common variable immunodeficiency

Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.


sterile multifocal osteomyelitis with periostitis and pustulosis

An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis.


congenital myasthenic syndrome 6

Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.


alpha thalassemia-X-linked intellectual disability syndrome

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.


2q37 microdeletion syndrome

A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.


Cowden disease

A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.


Cernunnos-XLF deficiency

Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.


X-linked lymphoproliferative disease due to SH2D1A deficiency

A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells.


Familial Myelodysplastic Syndrome

Myelodysplastic syndrome caused by inherited damaging mutations in cancer susceptibility genes.


Robinow syndrome

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


asphyxiating thoracic dystrophy 3

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.


severe combined immunodeficiency due to DCLRE1C deficiency

Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.


Wiskott-Aldrich syndrome 2

Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.


Mayer-Rokitansky-Kuster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).


adult Fanconi syndrome

Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset.


Robertsonian translocation Down syndrome

Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.


Primary Sjögren's syndrome

Sjogren syndrome without a concomitant systemic autoimmune disorder.


cherubism

Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.


dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).


Lesch-Nyhan syndrome

Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.


congenital T-cell immunodeficiency

A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.


Ectopic growth hormone secretion

A syndrome characterized by abnormal secretion of growth hormone in conjunction with neoplastic growth occurring anywhere in the body.


Bohring-Opitz syndrome

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.


angioosteohypertrophic syndrome

A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.


ring chromosome 18

Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.


long QT syndrome 5

Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene.


Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.


abdominal obesity-metabolic syndrome

A combination of medical conditions that when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, dyslipidemia, impaired glucose tolerance, and insulin resistance.


Susac syndrome

Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.


Cockayne syndrome type 1

Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.


Ehlers-Danlos syndrome, kyphoscoliotic type 1

A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.


macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.


Diamond-Blackfan anemia 8

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.


psoriasis 14, pustular

Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.


Severe Combined Immunodeficiency due to CD45 Deficiency

An autosomal recessive condition caused by mutation(s) in the PTPRC (CD45) gene, encoding receptor-type tyrosine-protein phosphatase C. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell positive, and NK cell positive.


melanoma and neural system tumor syndrome

Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma).


primary Fanconi syndrome

A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.


COVID-19-Associated Acute Respiratory Distress Syndrome

Acute respiratory distress syndrome caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).


hyper-IgM syndrome

A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.


gray platelet syndrome

Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.


Meester-Loeys syndrome

An X-linked condition caused by mutation(s) in the BGN gene, encoding biglycan. It is characterized by cardiovascular defects and abnormal facies.


Jeune syndrome

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.


Fanconi anemia complementation group O

Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.


Poland syndrome

Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.


Ectopic prolactin secretion

A syndrome characterized by abnormal secretion of prolactin in conjunction with neoplastic growth occurring anywhere in the body.


Saethre-Chotzen syndrome

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.


Diamond-Blackfan anemia 7

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.


Rett syndrome

A severe neurodevelopmental disorder affecting the central nervous system.