name: convulsive disorder, familial, with prenatal or early onset


cornea plana 2

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

description: Any cornea plana in which the cause of the disease is a mutation in the KERA gene.


name: corneal dystrophy-perceptive deafness syndrome

description: Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.


band keratopathy

description: The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.


name: corneal degeneration, band-shaped spheroid


central cloudy dystrophy of François

description: Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.


name: congenital hereditary endothelial dystrophy of cornea

description: A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.


macular corneal dystrophy

description: Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.


Toriello-Carey syndrome

description: Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.


corpus callosum, agenesis of

description: A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.


name: cortical blindness-intellectual disability-polydactyly syndrome

description: This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly.


apparent mineralocorticoid excess

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


Costello syndrome

description: Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.


Crane-Heise syndrome

description: A very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.


craniodiaphyseal dysplasia

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


cranioectodermal dysplasia

description: Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).


temtamy syndrome

description: Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.


craniofacial dyssynostosis

description: Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.


name: craniometaphyseal dysplasia, autosomal recessive

description: Autosomal recessive form of craniometaphyseal dysplasia.


cardiocranial syndrome, Pfeiffer type

description: Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).


name: craniosynostosis with anomalies of the cranial base and digits


description: Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.


Baller-Gerold syndrome

description: Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).


name: craniosynostosis-intellectual disability syndrome of 51N and Gettig


description: A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.


craniotelencephalic dysplasia

description: Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.


name: generalized resistance to thyroid hormone

description: A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues.


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.


description: Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.


Fraser syndrome

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


cryptorchidism

description: The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life.


name: Cushing syndrome due to macronodular adrenal hyperplasia

description: A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.


name: Cushing disease due to pituitary adenoma

description: Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.


name: cutaneous photosensitivity-lethal colitis syndrome

description: Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.


name: cutis laxa, autosomal recessive, type 1A

description: An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.


ALDH18A1-related de Barsy syndrome

description: ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.


name: autosomal recessive cutis laxa type 2, classic type


name: cutis marmorata telangiectatica congenita

description: Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.


name: cutis verticis gyrata and intellectual disability


cystathioninuria

description: Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.


cystic disease of lung

description: The presence of multiple lung cysts.


cystic fibrosis

description: Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.


name: cystic fibrosis-gastritis-megaloblastic anemia syndrome

description: A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.


ocular cystinosis

description: Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.


juvenile nephropathic cystinosis

description: Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.


cystinuria

description: Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.


cytochrome-c oxidase deficiency disease

description: A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.


name: congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

description: Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.


D-glyceric aciduria

description: A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.


hereditary renal hypouricemia

description: Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).


Dandy-Walker syndrome

description: Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.


Ritscher-Schinzel syndrome 1

description: Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.


name: facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

description: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.


name: Dandy-Walker malformation-postaxial polydactyly syndrome

description: Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.


name: autosomal recessive nonsyndromic hearing loss 1A

description: An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.


name: deafness, congenital, and familial myoclonic epilepsy


DOORS syndrome

description: DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.


name: split hand-foot malformation 1 with sensorineural hearing loss

description: Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.


name: deafness, congenital, with total albinism


name: high myopia-sensorineural deafness syndrome

description: High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.


name: conductive deafness-malformed external ear syndrome


name: conductive deafness-ptosis-skeletal anomalies syndrome

description: Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.


deafness-vitiligo-achalasia syndrome

description: Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia.


name: deafness-small bowel diverticulosis-neuropathy syndrome

description: Deafness-small bowel diverticulosis-neuropathy syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).


name: deafness, neural, with atypical atopic dermatitis


deafness-oligodontia syndrome

description: Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.


name: hearing loss, sensorineural, autosomal-mitochondrial type


name: non-acquired combined pituitary hormone deficiency with spine abnormalities

description: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

description: A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.


dermatoleukodystrophy

description: Dermatoleukodystrophy is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.


dermochondrocorneal dystrophy

description: Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.


dermatoosteolysis, Kirghizian type

description: Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.


name: persistent hyperplastic primary vitreous, autosomal recessive

description: Autosomal recessive form of persistent hyperplastic primary vitreous.


name: dextrocardia with unusual facies and microphthalmia


name: nephrogenic diabetes insipidus-intracranial calcification syndrome

description: This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.


type 1 diabetes mellitus 1

description: An inherited susceptibility or predisposition to developing 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3.


Wolfram syndrome 1

description: Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.


Donnai-Barrow syndrome

description: Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.


trichohepatoenteric syndrome

description: A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.


diastematomyelia

description: A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.


diastrophic dysplasia

description: Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).


hyperdibasic aminoaciduria type 1

description: Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.


lysinuric protein intolerance

description: Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism.


dicarboxylic aminoaciduria

description: Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.


dihydropyrimidinuria

description: Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.


name: rhizomelic chondrodysplasia punctata type 2

description: Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.


name: hemolytic anemia due to diphosphoglycerate mutase deficiency

description: A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.


description: A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.


congenital lactase deficiency

description: Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.


name: diverticulosis of bowel, hernia, and retinal detachment

description: A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.


von Voss-Cherstvoy syndrome

description: Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.


orthostatic hypotension 1

description: A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.


Dubowitz syndrome

description: A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.


duodenal atresia

description: Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.


name: dwarfism, low-birth-weight type, with unresponsiveness to growth hormone


name: dwarfism, intellectual disability, and eye abnormality


name: dwarfism, proportionate, with hip dislocation


Dyggve-Melchior-Clausen disease

description: Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.


Riley-Day syndrome

description: A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.


name: cerebellar ataxia, intellectual disability, and dysequilibrium

description: A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.


name: congenital dyserythropoietic anemia type 2

description: Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.


name: anemia, congenital dyserythropoietic, type 1a


name: dyskeratosis congenita, autosomal recessive 1

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.


dysosteosclerosis

description: Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.


name: dyssegmental dysplasia, Rolland-Desbuquois type


name: Silverman-Handmaker type dyssegmental dysplasia

description: Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.


torsion dystonia 2

description: Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.


Meier-Gorlin syndrome 1

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.


Ebstein anomaly

description: Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.


SchC6pf-Schulz-Passarge syndrome

description: A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.


name: ectodermal dysplasia-sensorineural deafness syndrome

description: Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.


name: ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive


Rosselli-Gulienetti syndrome

description: A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene


name: ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

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


name: hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

description: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.


name: cleft lip/palate-ectodermal dysplasia syndrome

description: An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.


name: ectopia lentis 2, isolated, autosomal recessive

description: An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.


name: hypothyroidism, congenital, nongoitrous, 5

description: Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.


EEM syndrome

description: EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).


ectrodactyly-polydactyly syndrome

description: A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.


split hand-foot malformation 6

description: Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.


name: Ehlers-Danlos syndrome, fibronectinemic type

description: Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.


description: Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.


name: Ehlers-Danlos syndrome, dermatosparaxis type

description: A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.


Ellis-van Creveld syndrome

description: Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.


name: encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts


Aicardi-Goutieres syndrome 1

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


pontocerebellar hypoplasia type 4

description: Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.


Bonnemann-Meinecke-Reich syndrome

description: Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.


endocardial fibroelastosis

description: Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.


name: endocardial fibroelastosis and coarctation of abdominal aorta


name: endothelial dystrophy, congenital hereditary, with nail hypoplasia


enterocolitis

description: An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use.


name: congenital enteropathy due to enteropeptidase deficiency

description: A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.


protein-losing enteropathy

description: Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.


eosinophilic fasciitis

description: Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.


epidermodysplasia verruciformis

description: A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.


name: late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome


name: epidermolysis bullosa dystrophica Neurotrophica


description: Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.


name: junctional epidermolysis bullosa, non-Herlitz type

description: Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.


name: epidermolysis bullosa simplex 5B, with muscular dystrophy

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.


name: junctional epidermolysis bullosa Herlitz type

description: Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.


name: junctional epidermolysis bullosa with pyloric atresia

description: Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.


name: epidermolysis bullosa with diaphragmatic hernia


amelocerebrohypohidrotic syndrome

description: Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.


name: epilepsy, photogenic, with spastic diplegia and intellectual disability


name: celiac disease-epilepsy-cerebral calcification syndrome

description: Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.


epilepsy-telangiectasia syndrome

description: Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.


multiple epiphyseal dysplasia type 4

description: Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.


name: epiphyseal dysplasia of femoral head, myopia, and deafness


Lowry-Wood syndrome

description: Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.


Wolcott-Rallison syndrome

description: Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.


name: epithelial squamous dysplasia, keratinizing desquamative, of urinary tract


immunodeficiency 32B

description: A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.


ermine phenotype

description: A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.


name: transient erythroblastopenia of childhood

description: An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy.


congenital lethal erythroderma

description: A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.


eyebrow duplication-syndactyly syndrome

description: Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.


name: facial abnormalities, kyphoscoliosis, and intellectual disability


focal facial dermal dysplasia type III

description: Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.


lethal faciocardiomelic dysplasia

description: Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.


faciocardiorenal syndrome

description: Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.


name: factor V and factor VIII, combined deficiency of, type 1

description: Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.


name: factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor


name: autosomal recessive faciodigitogenital syndrome

description: Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.


congenital factor V deficiency

description: Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.


congenital factor VII deficiency

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


congenital factor X deficiency

description: Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.


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.


Fanconi anemia complementation group D2

description: Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.


Fanconi anemia complementation group A

description: Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.


name: glycogen storage disease due to GLUT2 deficiency

description: Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.


Fanconi-like syndrome

description: A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.


Farber lipogranulomatosis

description: A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.


femur-fibula-ulna complex

description: Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.


Gollop-Wolfgang complex

description: Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.


name: hypogonadotropic hypogonadism 23 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.


fetal iodine syndrome

description: Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).


fibrochondrogenesis 1

description: Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.


myofibromatosis, infantile, 1

description: Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.


name: gingival fibromatosis-facial dysmorphism syndrome

description: Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.


fibrosclerosis, multifocal

description: A rare syndrome of unknown etiology characterized by progressive fibrosis involving multiple organ sites.


Fuhrmann syndrome

description: Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.


description: Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.


name: congenital high-molecular-weight kininogen deficiency

description: A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.


familial benign flecked retina

description: Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.


Kandori fleck retina

description: Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.


focal epithelial hyperplasia

description: Hyperplasia characterized by the presence of a focal proliferation of epithelial cells.


hereditary folate malabsorption

description: Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.


name: hypogonadotropic hypogonadism 24 without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.


formiminoglutamic aciduria

description: Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.


fountain syndrome

description: Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.


brittle cornea syndrome

description: Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.


name: Friedreich ataxia and congenital glaucoma


frontofacionasal dysplasia

description: Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).


hereditary fructose intolerance

description: Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.


fructose-1,6-bisphosphatase deficiency

description: Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.


essential fructosuria

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


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.


fucosidosis

description: Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.


galactokinase deficiency

description: Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.


galactorrhea

description: Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia.


galactose epimerase deficiency

description: Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.


classic galactosemia

description: Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.


description: Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.


GM1 gangliosidosis type 1

description: GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.


GM1 gangliosidosis type 2

description: GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.


GM1 gangliosidosis type 3

description: GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.


GAPO syndrome

description: A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations


gastroschisis

description: Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.


Gaucher disease type I

description: Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.


Gaucher disease type II

description: Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.


Gaucher disease type III

description: Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.


name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

description: Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.


geleophysic dysplasia 1

description: Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.


genito-palato-cardiac syndrome

description: Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.


geroderma osteodysplastica

description: Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.


German syndrome

description: German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.


hydatidiform mole, recurrent, 1

description: Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.


ghosal hematodiaphyseal dysplasia

description: Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.


neonatal hemochromatosis

description: Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4


Bernard-Soulier syndrome

description: Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.


glaucoma 3A

description: An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.


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.


glutaryl-CoA dehydrogenase deficiency

description: Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.


name: multiple acyl-CoA dehydrogenase deficiency

description: A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.


glutaric acidemia type 3

description: Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.


name: glutathione synthetase deficiency without 5-oxoprolinuria


description: Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.


name: glycogen storage disease due to glucose-6-phosphatase deficiency type IA

description: Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.


glycogen storage disease Ib

description: A type of glycogenosis due to G6P deficiency.


glycogen storage disease II

description: Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.


glycogen storage disease III

description: Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.


name: glycogen storage disease due to glycogen branching enzyme deficiency

description: Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.


glycogen storage disease V

description: Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance.


glycogen storage disease VI

description: Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease.


glycogen storage disease VII

description: Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.


familial renal glucosuria

description: Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).


46 XX gonadal dysgenesis

description: 46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation.


Perrault syndrome 1

description: Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.


name: XY type gonadal dysgenesis-associated anomalies syndrome

description: Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.


name: anti-glomerular basement membrane disease

description: An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.


name: granulocytopenia with immunoglobulin abnormality


name: combined immunodeficiency with skin granulomas


name: granulomatous disease with defect in neutrophil chemotaxis


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-negative


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

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


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

description: Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.


name: lipodystrophy due to peptidic growth factors deficiency

description: Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).


Grubben-de Cock-Borghgraef syndrome

description: Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.


congenital factor XII deficiency

description: Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.


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.


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.


Hall-Riggs syndrome

description: Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.


name: hallux varus-preaxial polysyndactyly syndrome

description: Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.


Hartnup disease

description: Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).


congenital heart block

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


name: hemangiomatosis, cutaneous, with associated features


pulmonary venoocclusive disease 2

description: A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.


hemangiopericytoma, malignant

description: An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.


isolated hemihyperplasia

description: Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma.


congenital hematological disorder

description: A disorder of the blood that is present at birth.


description: Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.


name: hemolytic anemia with thermal sensitivity of red cells


name: hemolytic uremic syndrome, atypical, susceptibility to, 1


name: hemosiderosis, pulmonary, with deficiency of gamma-a globulin


name: Hennekam lymphangiectasia-lymphedema syndrome 1

description: Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.


name: hepatic veno-occlusive disease-immunodeficiency syndrome

description: Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.


congenital bile acid synthesis defect 2

description: Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.


name: non-spherocytic hemolytic anemia due to hexokinase deficiency

description: Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.


Mowat-Wilson syndrome

description: Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.


name: Hirschsprung disease-hearing loss-polydactyly syndrome

description: An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.


name: Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect


name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

description: Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.


histidinemia

description: Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.


name: histidinuria due to a renal tubular defect

description: An increased concentration of histidine in the urine.


classic Hodgkin lymphoma

description: Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.


holoprosencephaly 1

description: The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.


Holzgreve-Wagner-Rehder syndrome

description: A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.


homocarnosinosis

description: Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.


classic homocystinuria

description: Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.


name: homocystinuria due to methylene tetrahydrofolate reductase deficiency

description: Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.


methylcobalamin deficiency type cblE

description: An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.


name: autosomal recessive humeroradial synostosis

description: Autosomal recessive form of humeroradial synostosis (disease).


name: humeroradial synostosis with craniofacial anomalies


name: multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome


name: hydrocephalus, nonsyndromic, autosomal recessive 1

description: Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.


name: autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius

description: Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.


name: growth delay-hydrocephaly-lung hypoplasia syndrome

description: Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.


name: hydrocephaly-tall stature-joint laxity syndrome

description: Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.


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

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


hydrolethalus syndrome 1

description: Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.


normal pressure hydrocephalus

description: A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)


McKusick-Kaufman syndrome

description: McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.


non-immune hydrops fetalis

description: Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.


L-2-hydroxyglutaric aciduria

description: L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.


3-hydroxyisobutyric aciduria

description: 3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.


name: encephalopathy due to hydroxykynureninuria

description: Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.


name: seizures-intellectual disability due to hydroxylysinuria syndrome

description: Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.


hydroxyprolinemia

description: An increased concentration of hydroxyproline in the blood.


hymen, imperforate

description: A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.


name: carbamoyl phosphate synthetase I deficiency disease

description: Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.


name: hyperammonemia due to N-acetylglutamate synthase deficiency

description: N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.


hyper-beta-alaninemia

description: Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.


Rotor syndrome

description: Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.


Dubin-Johnson syndrome

description: Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.


name: transient familial neonatal hyperbilirubinemia

description: Jaundice in an otherwise healthy breast-fed newborn. It appears four to seven days after birth, lasts longer than the physiologic jaundice, and there are no identifiable causes.


Leydig cell hypoplasia, type 1

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


familial lipoprotein lipase deficiency

description: Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.


hyperlysinemia

description: Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.


name: hyperlysinemia due to defect in lysine transport into mitochondria


name: hypermetabolism due to defect in mitochondria


hyperopia, high

description: A severe form of hypermetropia with over +5.00 diopters.


ornithine translocase deficiency

description: A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.


juvenile Paget disease

description: Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.


hyperostosis corticalis generalisata

description: Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.


name: hyperparathyroidism, neonatal self-limited primary, with hypercalciuria


name: neonatal severe primary hyperparathyroidism

description: Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.


name: hyperphosphatasia with intellectual disability syndrome 1

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.


name: hyperphosphatemia, polyuria, and seizures


hyperprolinemia type 1

description: Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).


hyperprolinemia type 2

description: Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.


acrofrontofacionasal dysostosis 2

description: A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.


name: hypertelorism, microtia, facial clefting syndrome

description: Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.


name: cervical hypertrichosis-peripheral neuropathy syndrome

description: Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.


name: hypertrichotic osteochondrodysplasia Cantu type

description: Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.


name: hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase


name: autoimmune polyendocrine syndrome type 1

description: Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.


scurvy

description: A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.


name: glycogen storage disorder due to hepatic glycogen synthase deficiency

description: Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.


name: hypoinsulinemic hypoglycemia and body hemihypertrophy


description: This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.


name: hypogonadism with low-grade mental deficiency and microcephaly


Woodhouse-Sakati syndrome

description: Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.


name: primary hypergonadotropic hypogonadism-partial alopecia syndrome

description: This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.


name: hypohidrosis with abnormal palmar dermal Ridges


name: hypokalemic alkalosis, familial, with specific renal tubulopathy


Bartter disease type 2

description: Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.


hypomandibular faciocranial dysostosis

description: Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.