TaoMedAI/RareMedData huggingface dataset:
Ataxia-deafness-intellectual disability syndrome (ORPHA:1188)
A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.
Ataxia-hypogonadism-choroidal dystrophy syndrome (ORPHA:1180)
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome (ORPHA:370022)
A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.
Ataxia-oculomotor apraxia type 4 (ORPHA:459033)
A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.
Ataxia-pancytopenia syndrome (ORPHA:2585)
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.
Ataxia-photosensitivity-short stature syndrome (ORPHA:1184)
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
Ataxia-tapetoretinal degeneration syndrome (ORPHA:1178)
A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.
Ataxia-telangiectasia variant (ORPHA:370109)
A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.
Ataxia-telangiectasia-like disorder (ORPHA:251347)
A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent.
Atelosteogenesis type I (ORPHA:1190)
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Epidemiology
Atelosteogenesis I (AOI) is a very rare infrequently described disorder.
Clinical description
Affected neonates are stillborn or die rapidly after birth and present clinically with severe short-limbed dwarfism, dislocated hip, knee and elbow joints, club feet and if born alive have cardiorespiratory failure. Craniofacial dysmorphism describes a prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia.
Etiology
Atelosteogenesis I results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B (FLNB) located to 3p14.
Diagnostic methods
Diagnosis can be confirmed from skeletal radiographs, chondro-osseous histopathology and genetic testing. Distinctive radiographic findings comprise severe platyspondyly, distally tapered; shortened, incomplete or absent humeri and femurs; shortened or bowed radii, ulnas, and tibias; hypoplastic pelvis and fibulas; and deficient ossification of the metacarpals, middle and proximal phalanges.
Differential diagnosis
Differential diagnosis comprises other skeletal dysplasias with severe short-limbed dwarfism such as campomelic dysplasia, Ellis-van Creveld syndrome, achondroplasia, metatropic dysplasia, Roberts syndrome, short rib-polydactyly syndrome, and thanatophoric dysplasia. Other, differential diagnosis includes achondrogenesis, hypophosphatasia, and osteogenesis imperfecta.
Antenatal diagnosis
Prenatal ultrasound can detect bone dysplasia and other manifestation and plays an important role in early detection and diagnosis. Prenatal ultrasound findings for AOI may include severe limb shortening and deficient ossification of the long bones, shortened flaring or absent humeri and femurs from 18 weeks onwards. Other skeletal abnormalities as well as some facial dysmorphic features may be detectable.
Genetic counseling
All cases have been autosomal dominant and sporadic resulting from de novo mutations in FLNB.
Management and treatment
Palliative care is offered to newborns suffering from AOI.
Prognosis
Prognosis is poor. Death is often due to a combination of pulmonary hypoplasia and tracheobronchomalacia early in life.

                            Last update: 
                            November 2019


                            - Expert reviewer(s): 
                            Pr Stephen ROBERTSON  - Dr Emma WADE
Atelosteogenesis type II (ORPHA:56304)
A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Atelosteogenesis type III (ORPHA:56305)
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
Epidemiology
The prevalence of AOIII is unknown. Less than 25 affected patients have been reported.
Clinical description
AOII, like AOI, is characterized by rhizomelic limb shortness, dislocated hip, knee and elbow joints, broad hands and feet with broad digits, club feet, facial dysmorphism (midface hypoplasia, micrognathia, cleft palate). Feeding problems and cardiorespiratory insufficiency are often seen in newborns. Clinical manifestations due to secondary complications past early infancy include learning and language problems and a gross motor developmental delay.
Etiology
Atelosteogenesis III results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, 13 and 27-33 resulting in the translation of filamin B protein with altered biochemical properties.
Diagnostic methods
The diagnosis is established after a full skeletal x-ray survey and confirmed with genetic testing. AOIII demonstrates less delay of normal ossification compared to AOI.
Antenatal diagnosis
Prenatal diagnosis is possible by ultrasound from 20 weeks onward and by prenatal genetic testing in case of family history.
Genetic counseling
Most cases of AOIII are sporadic, but AOIII may be transmitted in an autosomal dominant manner. Affected individuals of which one of the parents presents with a milder phenotype (like Larsen syndrome) (see this term) have been reported. This is likely to be related to a somatic mosaicism in the parents for a mutation that is germline in the offspring.

                            Last update: 
                            July 2013


                            - Expert reviewer(s): 
                            Pr Stephen ROBERTSON
Athabaskan brainstem dysgenesis syndrome (ORPHA:69739)
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome (ORPHA:1192)
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.
Athyreosis (ORPHA:95713)
A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
Epidemiology
Prevalence is estimated at around 1/28,000. Athyreosis and thyroid hypoplasia (see this term) combined account for one-third of cases of thyroid dysgenesis.
Clinical description
Clinical manifestations of athyreosis are often subtle or not present at birth, probably as a result of trans-placental passage of some maternal thyroid hormone. More specific symptoms and signs do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age.
Etiology
Around 2% of cases have been shown to be familial and may be caused by mutations in the FOXE1,  NKX2-1, NKX2-5 or PAX8 genes (9q22, 14q13, 5q34 and 2q12-q14). Mutations that result in complete inactivation of the TSHR gene (14q31) can present with athyreosis.
Diagnostic methods
Imaging studies are required to confirm the diagnosis of athyreosis.
Genetic counseling
Athyreosis is generally thought to be sporadic. However, recent evidence points to the possibility of a genetic component.
Prognosis
Without treatment athyreosis results in severe intellectual deficit and short stature.

                            Last update: 
                            August 2010


                            - Expert reviewer(s): 
                            Dr Stephen LAFRANCHI  - Dr Maynika RASTOGI
Atkin-Flaitz syndrome (ORPHA:1193)
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.
Atopic keratoconjunctivitis (ORPHA:163934)
A rare, chronic allergic disease of the cornea and conjunctiva occurring in all age groups, characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.
Atrial septal aneurysm (ORPHA:99107)
A rare congenital non-syndromic heart malformation characterized by an abnormal protrusion of the interatrial septum into the right or left atrium, or both, during the cardiorespiratory cycle. The defect may be limited to the fossa ovalis or involve the entire septum. It can present as an isolated finding but is more often associated with interatrial shunts, in particular patent foramen ovale. Clinically it increases the risk of peripheral arterial embolism and stroke.
Atrial septal defect-atrioventricular conduction defects syndrome (ORPHA:1479)
An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.
Atrial standstill (ORPHA:1344)
A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.
Atrichia with papular lesions (ORPHA:86819)
A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome (ORPHA:1352)
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
Atrophic lichen planus (ORPHA:254449)
A rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center.
Epidemiology
The prevalence is unknown.
Clinical description
Lesions develop on the trunk or lower extremities on skin areas previously affected by classic lichen planus.
Etiology
Etiology is unknown.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Stephanie ARNOLD  - Dr Susan COOPER
Atrophoderma vermiculata (ORPHA:79100)
A rare genetic skin disease characterized by childhood onset of follicular keratotic papules slowly progressing to characteristic ''honeycomb'' atrophy on the cheeks, preauricular area, and forehead. Less frequently, the condition may affect also the upper lip, ears, or limbs. Additional features include facial erythema, milia, and follicular plugs.
Attenuated Chédiak-Higashi syndrome (ORPHA:352723)
A very rare and atypical form of Chédiak-Higashi syndrome (CHS), a genetic disorder characterized by partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
Epidemiology
Fewer than 100 cases have been reported to date but the disorder is likely underdiagnosed. The atypical form may account for 10-15% of CHS patients who do not develop the accelerated phase.
Clinical description
Mild adolescent- or adult-onset attenuated CHS is characterized by subtle or absent oculocutaneous albinism, a characteristic feature of classic CHS, as well as minor to severe infections during childhood but a lower frequency of infections in adolescence and adulthood, mild bleeding manifestations, and progressive neurological findings including intellectual deficit, peripheral neuropathy, parkinsonism, balance abnormalities, and tremor.
Etiology
Missense mutations in the LYST lysosomal trafficking regulator gene (1q42.1-q42.2) appear to cause this form of CHS.
Genetic counseling
Attenuated Chédiak-Higashi syndrome is inherited in an autosomal recessive manner.

                            Last update: 
                            January 2014


                            - Expert reviewer(s): 
                            Dr Wendy INTRONE
Attenuated familial adenomatous polyposis (ORPHA:220460)
A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.
Atypical autism (ORPHA:199627)
A rare, pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior.
Atypical chronic myeloid leukemia (ORPHA:98824)
A rare myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood leukocytosis due to increased numbers of morphologically dysplastic neutrophils and their precursors, hypercellular bone marrow with granulocytic proliferation and dysplasia (with or without dysplasia in the erythroid and megakaryocytic lineages), and prominent dysgranulopoiesis, but no or minimal absolute basophilia or monocytosis. Blasts account for less than 20% of leukocytes in the blood and bone marrow. BCR-ABL1 fusion is absent, as well as PDGFRA, PDGFRB or FGFR1 rearrangement, or PCM1-JAK2. Patients may present with signs and symptoms related to splenomegaly, anemia, or thrombocytopenia. Prognosis is generally poor.
Atypical dentin dysplasia due to SMOC2 deficiency (ORPHA:314721)
A rare, genetic, dentin dysplasia disease characterized by extreme microdontia, oligodontia, and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp), enamel hypoplasia and anterior open bite may also be associated.
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome (ORPHA:544628)
A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia.
Atypical glycine encephalopathy (ORPHA:289863)
A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy.
Epidemiology
The prevalence of atypical glycine encephalopathy is not known. Approximately 20 cases have been reported to date.
Clinical description
Symptoms are mostly non-specific and are not similar to the severe neurological symptoms observed in neonatal and infantile GE (see these terms). Some patients have milder disease with onset from late infancy to adulthood, while others have rapidly progressive severe disease often of late onset. It also includes patients with transient hyperglycinemia, whose symptoms in neonatal period resemble those of neonatal form. Manifestations include cognitive decline, behavioral disorders, ataxia, peripheral neuropathy and optic atrophy.
Etiology
Etiology of atypical glycine encephalopathy remains largely unknown. It was reported that some patients had mutations in genes encoding GCS components.
Genetic counseling
Mode of inheritance has not been identified in most of patients with atypical glycine encephalopathy

                            Last update: 
                            September 2012


                            - Expert reviewer(s): 
                             Shigeo KURE
Atypical hypotonia-cystinuria syndrome (ORPHA:238523)
A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism).
Atypical juvenile parkinsonism (ORPHA:391411)
A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.
Epidemiology
To date, only six families (from Iran, Italy, The Netherlands, Pakistan, and Turkey) have been reported.
Clinical description
The disease has a juvenile onset (usually in the early teens or early twenties) and manifests with pyramidal signs, dystonia, psychiatric (depression, anxiety, drug-induced psychosis, dementia, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms (bradykinesia, postural instability, rigidity, involuntary movements, dysarthria, supranuclear gaze, hypomimia, gait impairment, and myoclonic jerks). Intellectual disability is also observed.
Etiology
Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with Atypical juvenile parkinsonism (AJP).
Genetic counseling
AJP usually occurs in an autosomal recessive manner. However, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents.

                            Last update: 
                            January 2015


                            - Expert reviewer(s): 
                            Dr Coro PAISAN-RUIZ
Atypical lichen myxedematosus (ORPHA:86797)
An intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported.
Atypical Meigs syndrome (ORPHA:314466)
A rare benign ovarian tumor characterized by a benign pelvic mass associated with right-sided pleural effusion, but without ascites. The pleural effusion resolves after resection of the tumor.