aneurysm-osteoarthritis syndrome

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


Bartter disease type 1

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

description: 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.


name: NEMO Deleted Exon 5 Autoinflammatory Syndrome

description: An autoinflammatory syndrome caused by either gain-of-function splice site variants in the IKBKG gene resulting in a deletion in the C-terminal domain of the NEMO (NF-kappa-B essential modulator) protein or by increased expression of an isoform lacking the domain encoded by exon 5. It is clinically distinct from the immunodeficiency syndromes caused by loss-of-function IKBKG mutations and has features more characteristic of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE).


name: ectodermal dysplasia and immune deficiency

description: 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

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


Organic mood disorder

description: 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

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


name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

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


BAP1 tumor predisposition syndrome

description: A syndrome caused by germline mutations in the BAP1 gene. It is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations have an increased risk of developing various tumor types, most commonly BAP1-inactivated nevi/melanocytomas of the skin, uveal and cutaneous melanomas, peritoneal and pleural mesotheliomas, clear cell renal cell carcinoma, and basal cell carcinoma. (WHO 2018)


Tolosa-Hunt syndrome

description: 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 unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others.


name: Alkylating Agent-Related Myelodysplastic Syndrome

description: 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.


Heterotaxy Syndrome with Asplenia

description: A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; in this manifestation of the disorder, the spleen is absent.


chromosome 1p36 deletion syndrome

description: 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

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


name: hypogonadotropic hypogonadism 1 with or without anosmia

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


name: Immunodeficiencies Affecting Cellular and Humoral Immunity - Combined Immune Deficiency

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


Turcot Syndrome Type 2

description: An autosomal dominant hereditary neoplastic syndrome caused by mutations in the APC gene. It is characterized by the presence of medulloblastoma and familiar adenomatous polyposis.


name: Myelodysplastic Syndrome with TP53 Inactivation

description: Myelodysplastic syndrome characterized by the presence of TP53 gene inactivating alterations. They include monoallelic or biallelic TP53 gene mutations or one TP53 gene mutation and concurrent copy loss of TP53.


chronic granulomatous disease

description: 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.


name: SAMD9-Associated Hereditary Myelodysplastic Syndrome

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


Refractory Neutropenia

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


nail-patella syndrome

description: 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.


name: muscular dystrophy-dystroglycanopathy, type A

description: 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

description: 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.


22q Telomere Deletion Syndrome

description: A genetic syndrome caused by terminal 22q13 microdeletions. It is characterized by developmental delay and delayed or absent speech.


Plummer-Vinson syndrome

description: Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.


Rienhoff syndrome

description: 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

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


name: X-linked lymphoproliferative disease due to XIAP deficiency

description: 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

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


Somnolence syndrome

description: 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

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


Jackson-Weiss syndrome

description: 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.


Middle Cerebral Artery Syndrome

description: A common stroke syndrome caused by infarction of the cerebral territories supplied by the middle cerebral artery (MCA). As the areas of the brain perfused by the MCA are extensive, symptoms vary widely but may be characterized by hemiparesis, hemianopia, hemineglect and aphasia.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

description: An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.


17q21 Microdeletion Syndrome

description: A genetic syndrome caused by microdeletions in chromosome 17q21. The microdeletions encompass the MAPT and CRHR1 genes. It is characterized by mental retardation, hypotonia, distinctive facial features (long face, low-set ears, and pear-shaped nose), friendly behavior, and heart defects.


name: capillary malformation-arteriovenous malformation syndrome

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


Greig cephalopolysyndactyly syndrome

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


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia, Not Otherwise Specified

description: Myelodysplastic syndrome/acute myeloid leukemia in which there is no information on myelodysplasia-related gene mutations and cytogenetic abnormalities.


Aarskog-Scott syndrome, X-linked

description: 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

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


ectopic ACTH secretion syndrome

description: A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)


Cowden disease

description: 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.


name: Myelodysplastic Syndrome with Biallelic TP53 Mutation

description: Myelodysplastic syndrome characterized by the presence of biallelic TP53 gene mutations. It is associated with a poor prognosis.


Single Central Incisor Syndrome

description: An autosomal dominant condition usually caused by mutation(s) in the SHH gene, encoding sonic hedgehog, a secreted protein involved in the organization and morphology of the developing embryo. This condition is characterized by multiple, mainly midline, developmental variations, including the presence of a tooth in the center of the maxillary dental arch in both primary and permanent dentition, and any combination of the following: holoprosencephaly, congenital nasal malformation (choanal atresia, midnasal stenosis, or congenital pyriform aperture stenosis), cleft lip and/or palate, hypopituitarism (including hypothyroidism and hypogonadism, resulting in variations in genital development including small penis or incomplete masculinization in male infants), congenital heart anomalies, and developmental delay.


mucopolysaccharidosis type 3D

description: 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.


name: Multisystem inflammatory syndrome in adults

description: 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.


name: Iatrogenic Contrasexual Pubertal Development

description: Contrasexual pubertal development caused by medical intervention.


Atypical Hemolytic Uremic Syndrome-4

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


cold-induced sweating syndrome 2

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


name: Multiple Mitochondrial Dysfunctions Syndrome Type 3

description: A rare autosomal recessive subtype of mitochondrial dysfunctions syndrome caused by mutation(s) in the IBA57 gene, encoding putative transferase CAF17, mitochondrial. It is characterized by encephalopathy, leukodystrophy and developmental regression.


Angelman syndrome

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


Vici syndrome

description: 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

description: 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

description: 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

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


multiple endocrine neoplasia type 4

description: An autosomal dominant tumor syndrome caused by germline CDKN1B mutations that result in a phenotype similar to that of multiple endocrine neoplasia type 1, characterized by endocrine neoplasms, particularly in the parathyroid glands, pituitary, and pancreas. (WHO 2017)


Birt-Hogg-Dube syndrome 1

description: Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.


name: Childhood Myelodysplastic Syndrome with Low Blasts, Hypocellular

description: Childhood myelodysplastic syndrome with low blasts that is characterized by bone marrow hypocellularity.


cat-eye syndrome

description: 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

description: 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.


Inspissated bile syndrome

description: 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

description: 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.


STAT5B Deficiency

description: Growth hormone insensitivity syndrome caused by mutation(s) in the STAT5B gene, encoding signal transducer and activator of transcription 5B, a protein critical for the transcription of growth hormone-dependent genes.


Retroperitoneal Pain Syndrome

description: 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.


Adult Myelodysplastic Syndrome

description: Myelodysplastic syndrome that occurs in adulthood.


Usher syndrome type 2

description: 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

description: 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

description: 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 behavioral problems. In rare cases, brain, kidney or heart malformations may be present.


7q11.23 microduplication syndrome

description: 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, behavioral 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

description: 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.


name: cardiac, facial, and digital anomalies with developmental delay

description: An autosomal dominant condition caused by mutation(s) in the TRAF7 gene, encoding E3 ubiquitin-protein ligase TRAF7. It is characterized by developmental delay, cardiac, facial, and digital anomalies.


Froelich syndrome

description: 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.


WAGR syndrome

description: A very rare congenital condition involving the complex of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities.


Ectopic renin secretion

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


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

description: An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.


Brown-Vialetto-van Laere syndrome 2

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


Aicardi-Goutieres syndrome 1

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


Axenfeld-Rieger syndrome type 1

description: A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.


Recurrent Neurofibromatosis Type 1

description: The reemergence of neurofibromatosis type 1 after a period of remission.


DOCK2 deficiency

description: 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.


MAFA Related Familial Insulinomatosis

description: An autosomal dominant neoplastic syndrome caused by MAFA (MAF bZIP Transcription Factor A) gene mutations. It is characterized by the development of multiple insulin secreting pancreatic neuroendocrine tumors.


name: Ehlers-Danlos syndrome, musculocontractural type 1

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


DNA Ligase I Deficiency

description: A very rare genetic syndrome characterized by reduced replicative DNA ligase I.  It results in immunodeficiency and cellular hypersensitivity to DNA-damaging agents.


name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY

description: 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.


popliteal pterygium syndrome

description: A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.


Aicardi-Goutieres syndrome 2

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


complement component 2 deficiency

description: 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

description: 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

description: 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

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


Familial colorectal cancer type X

description: Hereditary nonpolyposis colorectal cancer syndrome characterized by the absence of germline mutations in DNA mismatch-repair genes.


Proteus syndrome

description: 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.


Isaacs Syndrome

description: An autoimmune syndrome characterized by continuous muscle activity on electromyography, occurring at rest and unaffected by local nerve blockade.


de Sanctis-Cacchione syndrome

description: A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.


Laron syndrome

description: 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.


Knobloch Syndrome 1

description: An autosomal recessive condition caused by mutation(s) in the COL18A1 gene, encoding collagen alpha-1(XVIII) chain. It is characterized by eye abnormalities, including high myopia and vitreoretinal degeneration.


multiple endocrine neoplasia type 1

description: Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors.


MHC class II deficiency

description: 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

description: 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

description: 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).


periodic fever syndrome

description: Fevers of unknown etiology recurring over months or years.


TORCH syndrome

description: A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly.


Widespread Chronic Pain

description: A condition in which the nerves register normal stimuli (lack of tissue injury) as pain, resulting in feelings of intense pain with even minor sensory input.


Sunset Syndrome

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


name: monoclonal mast cell activation syndrome

description: Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.


name: Myelodysplastic Syndrome with Somatic Mutation

description: Myelodysplastic syndrome characterized by the presence of somatic mutations.


Nicotine withdrawal

description: 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.


Type I Refractory Celiac Disease

description: Refractory celiac disease associated with normal intraepithelial lymphocyte phenotype.


name: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

description: 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

description: The reemergence of Cushing disease after a period of remission.


Silver-Russell syndrome

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


name: monosomy 7 myelodysplasia and leukemia syndrome 1

description: 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

description: 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.


name: Early-Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum

description: An autosomal recessive condition caused by mutation(s) in the TBCD gene, encoding tubulin-specific chaperone D. It is characterized by encephalopathy, cerebellar and cerebral atrophy, and a thin corpus callosum.


Lupus anticoagulant disorder

description: A hypercoaguable state that results from the presence of the immunoglobulin known as Lupus Anticoagulant. The antibody interacts with cell membrane phospholipids, causing increased aggregation and adhesion of platelets, which causes increased clot formation. Though the majority of patients who test positive for lupus anticoagulant do not have lupus, those individuals afflicted with lupus have a higher probability of developing the antibody.


Perlman syndrome

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


Holt-Oram syndrome

description: 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.


staphylococcal scalded skin syndrome

description: A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection.


shone complex

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


Fryns syndrome

description: Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.


Bone cement implantation syndrome

description: A rare and potentially fatal perioperative complication of cemented bone surgery, characterized by hypotension, hypoxia, cardiac dysrhythmias, and in severe cases cardiac arrest.


name: hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome

description: An autosomal dominant condition caused by mutations(s) in the CTBP1 gene, encoding C-terminal-binding protein 1. It is characterized by hypotonia, ataxia, developmental delay, and tooth enamel defects.


immunodeficiency 28

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


Lipase Hypersecretion Syndrome

description: A rare disorder resulting from neoplastic exocrine excess. It is typically seen in 10-15 % of patients with pancreatic acinar cell carcinoma. Clinical signs include subcutaneous fat necrosis, polyarthralgia and osteolytic lesions. Clinical course may proceed to non-bacterial thrombotic endocarditis. Clinical prognosis is poor due to its usual onset with advanced disease.


Majeed syndrome

description: 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

description: 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

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


name: autoimmune lymphoproliferative syndrome type 2A

description: 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.


Waardenburg syndrome

description: A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.


Warsaw breakage syndrome

description: A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.


VEXAS syndrome

description: 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.


Fanconi anemia complementation group L

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


hyper-IgM syndrome type 2

description: 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

description: 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

description: 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.


long QT syndrome 11

description: Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.


Ectopic aldosterone secretion

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


Mosaic Variegated Aneuploidy Syndrome 2

description: An autosomal recessive condition caused by mutation(s) in the CEP57 gene, encoding centrosomal protein of 57 kDa. It is characterized by variable phenotypes, associated with mosaic aneuploidies.


48,XXXY syndrome

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


Dravet syndrome

description: Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.


name: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

description: A rare autosomal recessive condition caused by mutation(s) in the RFC1 gene, encoding replication factor C subunit 1. It is characterized by cerebellar dysfunction, bilateral vestibulopathy, and axonal neuropathy.


congenital myasthenic syndrome 4C

description: 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

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


name: DPAGT1-congenital disorder of glycosylation

description: 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

description: 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.


Coffin-Lowry syndrome

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


CYLD Cutaneous Syndrome

description: The development of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, basal cell adenoma of the salivary gland. It usually manifests in the second or third decade. The tumors typically arise from the scalp and face but can also arise from the torso and sun-protected sites. It is caused by germline mutations of the tumor suppressor gene CYLD.


Schwartz-Jampel syndrome

description: 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).


name: Autoimmune Lymphoproliferative Syndrome with Somatic FAS Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of somatic FAS mutation.


Loeys-Dietz syndrome 2

description: 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.


Teething syndrome

description: An expected condition experienced by children during the emergence of deciduous teeth. Though a full set of 20 primary teeth takes more than two years to emerge, teething syndrome may be variably noted from the first paired eruption (usually at the sixth month) until the last. Characteristically, irritability, inflamed gingivae, drooling and chewing on solid objects may be seen several days prior to the eruption with rapid resolution. Typically, the lower central incisors appear first followed by the upper central incisors. Molars and canine teeth are the last to erupt.  Anecdotal associations with fever and diarrhea are misattributed.


Aicardi-Goutieres syndrome 7

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


name: IDH Inhibitor Associated Differentiation Syndrome

description: A constellation of signs and symptoms occurring in the context of administration of isocitrate dehydrogenase (IDH) inhibitors in hematologic malignancies. It is characterized by dyspnea, unexplained fever, pulmonary infiltrates, hypoxia, pleural effusion, acute kidney injury, pericardial effusion, arthralgia, lymphadenopathy, edema and weight gain.


hyper-IgM syndrome type 3

description: 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.


name: IL-7R-Alpha-deficient Severe Combined Immunodeficiency

description: An autosomal recessive form of severe combined immunodeficiency characterized as T-cell negative, B-cell positive, NK cell positive, and with mutations in the gene encoding interleukin-7 receptor alpha chain protein. This class of SCID accounts for approximately 10% of all SCID cases.


Stickler syndrome type 2

description: 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). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).


UV-sensitive syndrome 3

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


name: SAMD9L-Associated Hereditary Myelodysplastic Syndrome

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


name: ectodermal dysplasia and immunodeficiency 1

description: 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

description: 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.


name: Severe Combined Immunodeficiency due to RAG1 Deficiency

description: 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

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


name: Childhood Myelodysplastic Syndrome with Low Blasts

description: Myelodysplastic syndrome that occurs in childhood and is characterized by cytopenia and the presence of less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood.


telomere syndrome

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


XFE progeroid syndrome

description: A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.


neurocutaneous syndrome

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


Acquired Feminization

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


Diamond-Blackfan anemia 9

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


Ectopic calcitonin production

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


paraneoplastic polyneuropathy

description: 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.


AGAT deficiency

description: L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.


Coffin-Siris syndrome

description: 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

description: 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 (behavioral 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.


Hermansky-Pudlak syndrome

description: 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.


name: hypertrophic osteoarthropathy, primary, autosomal recessive, 1

description: Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene.


Stickler syndrome

description: 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).


Pitt-Hopkins syndrome

description: Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.


Muenke syndrome

description: 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

description: 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.


Waardenburg syndrome type 2A

description: Waardenburg syndrome Type 2 caused by mutations in the MITF gene.


description: A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.


Cole-Carpenter syndrome

description: 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).


Lennox-Gastaut syndrome

description: Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.


Postpericardiotomy Syndrome

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


DiGeorge syndrome

description: 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.


description: 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

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


Low Anterior Resection Syndrome

description: A collection of symptoms following removal of part or all of the rectum that may include frequency or urgency of stools, numerous bowel movements over a few hours, fecal incontinence, constipation alternating with numerous bowel movements, and/or increased intestinal gas.


holoprosencephaly 5

description: Holoprosencephaly associated with mutations in the ZIC2 gene.


mucopolysaccharidosis type 4

description: A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.


Timothy syndrome

description: 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

description: 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.


van Maldergem syndrome 2

description: Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.


name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

description: A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.


Frasier syndrome

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


Potocki-Shaffer syndrome

description: 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).


name: GATA2 deficiency with susceptibility to MDS/AML

description: 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

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


split hand-foot malformation 1

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


Multiple Familial Trichoepithelioma

description: A rare autosomal dominant inherited disorder associated with mutation of the CYLD tumor suppressor gene. It is characterized by the development of multiple trichoepitheliomas in the central face and sometimes on the scalp, neck, or trunk.


description: The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized 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 localized to within a 12-Mb region on chromosome 8p11.23-q11.21.


Central pain syndrome

description: A neurological condition characterized by diffuse sensory changes, most commonly pain, secondary to central nervous system disease or injury.


name: diaphyseal medullary stenosis-bone malignancy syndrome

description: 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).


Immunodeficiency of Unknown Origin

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


immunodeficiency 36

description: 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.


name: acquired monoclonal Ig light chain-associated Fanconi syndrome

description: A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.


holoprosencephaly 2

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


Endocrine Syndrome

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


cleidocranial dysplasia 1

description: 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

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


Roberts-SC phocomelia syndrome

description: 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.


name: MPDU1-congenital disorder of glycosylation

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


orofacial cleft 1

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


mucopolysaccharidosis type 3A

description: 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.


name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

description: 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

description: 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.


description: A hereditary cancer syndrome characterized by the development of multiple paragangliomas including pheochromocytomas. It is caused by mutations in SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes.


Landau-Kleffner syndrome

description: 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

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


X-linked Ehlers-Danlos syndrome

description: 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 characterized 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.


name: acute inflammatory demyelinating polyradiculoneuropathy

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


description: 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

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


name: Alacrima, Achalasia, and Impaired Intellectual Development Syndrome

description: An autosomal recessive condition caused by mutation(s) in the GMPPA gene, encoding mannose-1-phosphate guanyltransferase alpha. It is characterized by alacrima, achalasia, and impaired intellectual development.


Ectopic Parathormone Secretion Syndrome

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


Autosomal recessive agammaglobulinemia

description: 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

description: 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.


PTEN hamartoma tumor syndrome

description: A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.


Rhabdoid tumor predisposition syndrome

description: An autosomal dominant-inherited neoplastic predisposition syndrome caused by mutation(s) in the SMARCB1 or SMARCA4 genes. It is characterized by the development of atypical teratoid/rhabdoid tumors 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.


description: Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.


MUTYH-Associated Polyposis

description: An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1.  It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma.  Development of gastric and small intestinal polyps may also occur.


ring chromosome 22

description: 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.


Organic personality disorder

description: 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

description: 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

description: 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

description: 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.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

description: An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.


description: 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.


name: ectopic hormone secretion syndrome associated with neoplasia

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


Cold-induced sweating syndrome 1

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


Myxedema, Congenital

description: Congenital iodine deficiency syndrome associated with milder mental retardation, short stature, goiter, and hypothyroidism. It results from iodine deficiency and hypothyroidism in the fetus during late pregnancy or in the neonatal period.


diethylstilbestrol syndrome

description: 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.


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

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


Diamond-Blackfan anemia 4

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


selective IgM deficiency

description: 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

description: 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.


Wilms Tumor 1 Gene Syndromes

description: A group of syndromes caused by autosomal dominant mutation(s) in the WT1 gene, encoding Wilms tumor protein. Patients with this mutation may have a predisposition to developing Wilms tumors.


Congenital Disorder of Natural Immunity

description: 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.


name: PMM2-congenital disorder of glycosylation

description: 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

description: 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.


name: autosomal recessive multiple pterygium syndrome

description: 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.


name: Severe Acute Respiratory Distress Syndrome

description: A form of acute respiratory distress syndrome (ARDS) that is marked by severe hypoxemia. Based on the Berlin criteria, onset must occur within one week of a clinical insult or there must be evidence of new or worsening respiratory symptoms. Chest imaging reveals bilateral opacities consistent with pulmonary edema that are not fully explained by effusions, lobar/lung collapse, or nodules. Respiratory failure is not fully explained by heart failure or fluid overload and objective assessment, e.g. echocardiography, is required to exclude hydrostatic edema if no risk factor is present. Additionally, oxygenation as measured by a partial pressure of arterial oxygen (PaO2) to the fraction of inspired oxygen (FIO2) is equivalent to 100 mm Hg or less with positive end-expiratory pressure (PEEP) of at least 5 cm of water (Ranieri VM et al., JAMA. 2012;307(23):2526-2533). Severe ARDS may be associated with cytokine release syndrome.


Dysfunctional Elimination Syndrome

description: Fecal constipation or impaction resulting in bowel and bladder dysfunction.


name: type 3 autoimmune lymphoproliferative syndrome

description: 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.


name: ALG3-congenital disorder of glycosylation

description: 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

description: 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 analogs. 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

description: 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

description: 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.


name: myelodysplastic syndrome with multilineage dysplasia

description: 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.


Meigs syndrome

description: 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.


basilar artery insufficiency

description: A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function.


name: familial cold autoinflammatory syndrome 2

description: 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.


Intestinal polyposis syndrome

description: A syndrome associated with the development of multiple polyps throughout the intestine. It includes familial adenomatous polyposis , hamartomatous polyposis syndromes, and other rare polyposis syndromes.


Perforin Deficiency

description: 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.


Joubert syndrome 17

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.


Neonatal Drug Withdrawal

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


name: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

description: An autosomal dominant condition caused by mutations(s) in the AHDC1 gene, encoding transcription factor Gibbin. It has a broad clinical spectrum, which includes impaired intellectual development, obstructive sleep apnea and mild facial dysmorphia.


name: familial episodic pain syndrome with predominantly lower limb involvement

description: 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.


Arterial steal syndrome

description: Shunting of blood flow from the arterial to the venous side of a hemodialysis access.


name: autosomal recessive Kenny-Caffey syndrome

description: 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

description: 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.


name: Hereditary Nonpolyposis Colorectal Cancer

description: An inherited syndrome characterized by the development of several cancers, particularly colon and rectal cancers.  It includes Lynch syndrome which is associated with germline mutations in DNA mismatch-repair genes and familial colorectal cancer type X which is characterized by the absence of germline mutations in DNA mismatch-repair genes.


Red man syndrome

description: An abrupt onset drug reaction characterized by a red rash that involves the face, neck, and upper torso.


van Maldergem syndrome 1

description: Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.


androgen insensitivity syndrome

description: 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).


name: Myelodysplastic Syndrome with Excess Blasts and Fibrosis

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


iridocorneal endothelial syndrome

description: 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


Toxic anterior segment syndrome

description: An acute postoperative inflammatory reaction in which a noninfectious substance enters the anterior segment of the eye and induces toxic damage to the intraocular tissues.


Meckel syndrome

description: A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.


immunodeficiency 27A

description: 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

description: 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

description: 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.


PIK3CA related overgrowth spectrum

description: A group of rare disorders that are usually caused by somatic mutations in the PIK3CA gene, but may rarely be caused by de novo germline mutations. These disorders are typically characterized by sporadic overgrowth of parts of the body, intellectual disability, low muscle tone, and vascular malformations with congenital or early childhood onset. Representative examples include: fibroadipose hyperplasia, CLOVES syndrome, megalencephaly-capillary malformation syndrome, hemihyperplasia-multiple lipomatosis syndrome, hemimegalencephaly, and facial infiltrating lipomatosis.


Lynch syndrome 1

description: A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.


Cornelia de Lange syndrome

description: 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.


ring chromosome 21

description: 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.


CALFAN Syndrome

description: A condition caused by biallelic mutation(s) in the SCYL1 gene, encoding N-terminal kinase-like protein. It is characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure.


Acquired Hypogammaglobulinemia

description: A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.


name: sterile multifocal osteomyelitis with periostitis and pustulosis

description: 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.


Joubert syndrome with renal defect

description: A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.


name: purine nucleoside phosphorylase deficiency

description: Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.


congenital myasthenic syndrome 6

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


name: alpha thalassemia-X-linked intellectual disability syndrome

description: 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.


multiple endocrine neoplasia type 2B

description: Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas and numerous neural defects including neuromas.


2q37 microdeletion syndrome

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


Floating-Harbor syndrome

description: Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.


name: X-linked lymphoproliferative disease due to SH2D1A deficiency

description: 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.


Hereditary Myelodysplastic Syndrome

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


Robinow syndrome

description: 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

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


Acroparesthesia Syndrome

description: A disorder which affects sensation in the hands. Clinical signs usually include tingling or numbness with onset in middle-age. There is a female predominance among those affected.


name: severe combined immunodeficiency due to DCLRE1C deficiency

description: 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

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


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia with Mutated TP53

description: Myelodysplastic syndrome/acute myeloid leukemia characterized by the presence of TP53 gene mutations. There are 10%-19% blasts in bone marrow or peripheral blood.


Cernunnos-XLF deficiency

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


Mayer-Rokitansky-Kuster-Hauser syndrome

description: 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

description: Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.


name: Robertsonian translocation Down syndrome

description: 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.


description: An autosomal recessive condition caused by mutation(s) in the STAMBP gene, encoding STAM-binding protein. It is characterized by severe microcephaly, diffuse cutaneous capillary malformations, refractory epilepsy, and developmental delay.


Primary Sjögren's syndrome

description: Sjogren syndrome without a concomitant systemic autoimmune disorder.