empty sella syndrome

description: Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.


Postnatal Drug Withdrawal

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

description: Withdrawal signs and symptoms that present during the postnatal period and are caused by drug use by the pregnant mother.


Inherited Osteolysis Syndrome

description: A genetically heterogenous group of disorders characterized by loss of bone tissue.


STXBP2 Deficiency

description: A condition of decreased or absent presence of syntaxin-binding protein 2. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis type 5.


description: Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.


Fanconi anemia complementation group D1

description: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.


Gitelman syndrome

description: Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.


KSHV inflammatory cytokine syndrome

description: A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma.


autoinflammatory syndrome

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


Weaver syndrome

description: Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.


oculocerebrorenal syndrome

description: Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.


mucopolysaccharidosis type 4A

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.


name: Myelodysplastic syndrome with low blasts (disorder)

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


ataxia-pancytopenia syndrome

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


mosaic variegated aneuploidy syndrome

description: An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The condition is characterized by a predisposition to mitotic non-disjunction, resulting in a high percentage of aneuploid cells. The phenotype is variable and there is a predisposition to cancer.


Laurence-Moon syndrome

description: A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.


leukocyte adhesion deficiency 1

description: Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.


Radiation sickness syndrome

description: The complex of symptoms characterizing the disease known as radiation injury, resulting from excessive exposure (greater than 200 rads or 2 gray) of the whole body (or large part) to ionizing radiation. The earliest of these symptoms are nausea, fatigue, vomiting, and diarrhea, which may be followed by epilation, hemorrhage, inflammation of the mouth and throat, and general loss of energy. In severe cases, where the radiation exposure has been approximately 1000 Rad (10 gray) or more, death may occur within two to four weeks. Those who survive six weeks after the receipt of a single large dose of radiation to the whole body may generally be expected to recover. (U.S. Nuclear Regulatory Commission).


split hand-foot malformation 3

description: The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.


name: multicentric carpo-tarsal osteolysis with or without nephropathy

description: Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.


Sturge-Weber syndrome

description: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.


Felty syndrome

description: Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.


acute erythroid leukemia

description: An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)


description: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.


PFAPA syndrome

description: An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

description: An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.


Osteootohepatoenteric Syndrome

description: An exceedingly rare autosomal recessive condition caused by mutation (s) in the UNC45A gene, encoding protein unc-45 homolog A. It is characterized neonatal cholestasis, deafness, and bone fragility.


description: A myelodysplastic syndrome resulting from chemotherapy or radiation therapy for cancer.


pseudohypoparathyroidism type 1A

description: A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).


Pearson syndrome

description: Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.


chromosome 18p deletion syndrome

description: Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.


name: hereditary benign intraepithelial dyskeratosis

description: A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.


description: Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas).


Blau syndrome

description: Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.


name: ALG12-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).


Keipert syndrome

description: A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.


Lambert-Eaton myasthenic syndrome

description: Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).


name: postural orthostatic tachycardia syndrome

description: A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart.


chromosome 18q deletion syndrome

description: A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.


triple-A syndrome

description: Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.


Fanconi anemia complementation group B

description: Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.


Cerebellar stroke syndrome

description: An uncommon stroke syndrome caused by infarction of the cerebellum. Signs and symptoms may include vertigo and incoordination.


Endogenous Cushing Syndrome

description: Cushing syndrome that is caused by excessive production of cortisol by the adrenal gland.


euthyroid sick syndrome

description: Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.


name: Autoimmune Lymphoproliferative Syndrome with Germline FADD Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of germline FADD mutation.


name: Myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia

description: Myelodysplastic syndrome characterized by mutation of SF3B1 gene. There is bone marrow dysplasia typically in one or more hematopoietic cell lineages. There are less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood.


thalidomide embryopathy

description: A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.


mucopolysaccharidosis type 6

description: Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.


cauda equina syndrome

description: Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery.


name: autoimmune lymphoproliferative syndrome type 1

description: A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but variable penetrance. It is the most common subtype of autoimmune lymphoproliferative syndrome (ALPS). It is usually caused by a germline mutation in the Fas gene that leads to defective Fas-induced apoptosis but in a minority of cases, it also may be attributed to a somatic Fas mutation. 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.


orofaciodigital syndrome I

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


tooth and nail syndrome

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


Brainstem stroke syndrome

description: A stroke syndrome caused by infarction of the brainstem. Signs and symptoms may include vertigo, ataxia, diplopia, dysarthria and an altered level of consciousness.


long QT syndrome 12

description: Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.


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


tarsal tunnel syndrome

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


Ehlers-Danlos syndrome

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


name: Bilateral Diffuse Uveal Melanocytic Hyperplasia

description: A paraneoplastic syndrome characterized by diffuse proliferation of benign melanocytes in the uvea, in patients with an underlying extraocular malignancy. (WHO 2018)


neuroleptic malignant syndrome

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


von Hippel-Lindau disease

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


Bile Acid Synthesis Defect

description: A congenital or acquired defect in the bile acid biosynthesis, resulting in progressive liver disease.


Activated PI3K Delta Syndrome

description: A rare, autosomal dominant inherited primary immunodeficiency disorder caused by mutations in either PIK3CD gene or PIK3R1 gene. Clinical manifestations include the following: recurrent respiratory tract infections; non-malignant lymphoproliferation that results in generalized lymphadenopathy and hepatosplenomegaly; chronic infections with Epstein-Barr virus, cytomegalovirus, and herpes simplex virus; cytopenia; and glomerulonephritis. Patients are at an increased risk of developing non-Hodgkin or Hodgkin lymphoma.


neoplastic syndrome

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


fibromyalgia

description: A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation.


name: Rhabdoid Tumor Predisposition Syndrome 2

description: Rhabdoid tumor predisposition syndrome caused by mutation(s) in the SMARCA4 gene, encoding transcription activator BRG1.


UV-sensitive syndrome 1

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


Aicardi-Goutieres syndrome 5

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


name: immunodeficiency 11b with atopic dermatitis

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


Hair-thread tourniquet syndrome

description: A condition in which a hair or thread becomes wrapped around a digit obstructing blood flow.


name: autosomal dominant Kenny-Caffey syndrome

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


osteoporosis-pseudoglioma syndrome

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


Posterior cord syndrome

description: A syndrome caused by insult to the posterior columns of the spinal cord and resulting in impairments of proprioception, vibration, and fine touch. Typical presenting signs and symptoms may include sensory ataxia, dizziness, unsteady gait, and frequent falls.


name: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress

description: An autosomal dominant condition caused by mutation(s) in the NKX2-1 gene, encoding homeobox protein Nkx-2.1. It is characterized by choreoathetosis, congenital hypothyroidism, and pulmonary dysfunction.


X-linked retinoschisis

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


name: Autoimmune Lymphoproliferative Syndrome with Other Specified FAS Pathway Germline Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of FAS pathway germline mutations in the FASLG, CASP10, CASP8, and FADD genes.


autoimmune lymphoproliferative syndrome

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


congenital myasthenic syndrome 11

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


Klinefelter syndrome

description: A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.


Usher syndrome type 2C

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


hyper-IgM syndrome type 1

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


name: Mild Acute Respiratory Distress Syndrome

description: A form of acute respiratory distress syndrome (ARDS) that is marked by mild 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 between 200 and 300 mm Hg with positive end-expiratory pressure (PEEP) or continuous positive airway pressure (CPAP) of at least 5 cm of water (Ranieri VM et al., JAMA. 2012;307(23):2526-2533).


Lynch syndrome

description: An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.


Turner syndrome

description: Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.


Cerebellar mutism

description: A syndrome, usually presenting after midline posterior fossa tumor resection, which is characterized by abnormalities of speech, behavioral or affective disturbances, and diffuse cerebellar dysfunction.


Carney-Stratakis syndrome

description: A rare, autosomal dominant inherited neoplastic syndrome caused by mutations in the genes that code the succinate dehydrogenase protein complex. It is charcaterized by the presence of gastrointestinal stromal tumors and paragangliomas.


ataxia telangiectasia

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


Multiple endocrine neoplasia Type 2

description: Multiple endocrine neoplasia caused by mutation of the RET gene. It includes the following neoplastic processes: multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and hereditary thyroid gland medullary carcinoma.


Prader-Willi syndrome

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


47,XYY syndrome

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


Crigler-Najjar syndrome

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


TERC Deficiency

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


name: COVID-19–associated multisystem inflammatory syndrome in children

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


Freeman-Sheldon syndrome

description: A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.


Hallermann-Streiff syndrome

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


Renpenning syndrome

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


Chediak-Higashi syndrome

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


Cerebral hyperperfusion syndrome

description: Unexpected increase in cerebral blood flow after carotid endarterectomy or carotid artery stenting presenting with a clinical triad of ipsilateral headache, seizure and focal neurologic symptoms.


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

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.


Menkes disease

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


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.


inborn error of immunity

description: A disorder in which the immune system is unable to mount an adequate immune response.


multiple organ dysfunction syndrome

description: The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult.


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.


Feminization

description: The development of secondary female sex characteristics in males.


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.


MELAS syndrome

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


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.


Guillain-Barre syndrome

description: A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.


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.


mixed connective tissue disease

description: Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.


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.


cardio-renal syndrome

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


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: drug rash with eosinophilia and systemic symptoms

description: DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.


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.


mucopolysaccharidosis type 3

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


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.


Miller Fisher syndrome

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


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.


Brown-Sequard syndrome

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


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

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


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.


posterior leukoencephalopathy syndrome

description: An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.


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.


Werner syndrome

description: A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.


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.


long QT syndrome 2

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


Holt-Oram syndrome

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.


creatine transporter deficiency

description: X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.


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.


Apert syndrome

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


VEXAS syndrome

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.


Cockayne syndrome

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


Fanconi anemia complementation group L

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.


paraneoplastic syndrome

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


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.


long QT syndrome 1

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


48,XXXY syndrome

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.


anterior spinal artery syndrome

description: Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)


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.


sweet syndrome

description: Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.


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.


Usher syndrome

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


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.


dry eye syndrome

description: A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye.


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.