{"orpha":2047,"name":"Flynn-Aird syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2047/","orphanet_url":"https://www.orpha.net/en/disease/detail/2047","names":{"fr":{"name":"Syndrome de Flynn-Aird","definition":"Maladie génétique rare caractérisée par l'apparition dans l'enfance d'une surdité neurosensorielle bilatérale progressive, des anomalies oculaires (myopie, cataracte, rétinite pigmentaire), des atteintes du système nerveux central et périphérique (démence, épilepsie, ataxie, neuropathie périphérique), des anomalies ectodermiques (atrophie cutanée, alopécie, caries dentaires) et des malformations squelettiques (kystes osseux, raideur articulaire, scoliose, cyphose). L'analyse biologique peut révéler un taux élevé de protéines du liquide céphalorachidien."},"de":{"name":"Flynn-Aird-Syndrom","definition":"Eine seltene genetisch bedingte Erkrankung, die sich durch eine im Kindesalter einsetzende, progressive, beidseitige Schallempfindungsschwerhörigkeit, Augenanomalien (Myopie, Katarakt, Retinitis pigmentosa), Störungen des zentralen und peripheren Nervensystems (Demenz, Epilepsie, Ataxie, periphere Neuropathie), ektodermale Merkmale (Hautatrophie, Alopezie, Zahnkaries) und Skelettanomalien (Knochenzysten, Gelenksteife, Skoliose, Kyphose) auszeichnet. Bei Laboruntersuchungen kann ein erhöhter Eiweißgehalt im Liquor festgestellt werden."},"es":{"name":"Síndrome de Flynn-Aird","definition":"Es una enfermedad genética poco frecuente caracterizada por el inicio en la infancia de hipoacusia neurosensorial bilateral progresiva, anomalías oculares (miopía, cataratas, retinitis pigmentaria), afectación del sistema nervioso central y periférico (demencia, epilepsia, ataxia, neuropatía periférica), anomalías ectodérmicas (atrofia cutánea, alopecia, caries dental) y esqueléticas (quistes óseos, rigidez articular, escoliosis, cifosis). Las pruebas de laboratorio pueden revelar niveles elevados de proteínas en el líquido cefalorraquídeo."},"it":{"name":"Sindrome di Flynn-Aird","definition":"Si tratta di una malattia genetica rara, caratterizzata da sordità neurosensoriale progressiva e bilaterale ad esordio infantile, anomalie oculari (miopia, cataratta, retinite pigmentosa), sintomi a carico del sistema nervoso centrale e periferico (demenza, epilessia, atassia, neuropatia periferica), sintomi ectodermici (atrofia cutanea, alopecia, carie) e anomalie scheletriche (cisti ossee, rigidità articolare, scoliosi, cifosi). Gli esami di laboratorio evidenziano livelli elevati di proteine nel liquido cefalorachidiano."},"nl":{"name":"Syndroom van Flynn-Aird","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door aanvang in de kindertijd van bilateraal progressief sensorineuraal gehoorverlies, ooganomalieën (myopie, cataract, retinitis pigmentosa), kenmerken van centraal en perifeer zenuwstelsel (dementie, epilepsie, ataxie, perifere neuropathie), ectodermale kenmerken (atrofie van huid, alopecie, tandbederf), en skeletanomalieën (botcysten, stijfheid van gewricht, scoliose, kyfose). Laboratoriumonderzoek toont mogelijk verhoogd gehalte van proteïne in cerebrospinaal vocht."},"pt":{"name":"Síndrome Flynn-Aird"},"pl":{"name":"Zespół Flynna i Airda"},"cs":{"name":"Flynnův-Airdův syndrom","synonyms":["Flynn-Airdův syndrom"]},"uk":{"name":"Синдром Флінна-Ейрда","definition":"A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein."},"zh":{"name":"Flynn-aird综合征"},"tr":{"name":"Flynn-Aird sendromu"}},"xrefs":[{"source":"OMIM","code":"136300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007624","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537066","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0343108","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2347","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":71859,"name":"Rare genetic neurological disorder","classifications":[156]},{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"5878601[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5878601[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}