{"orpha":1264,"name":"Tricho-retino-dento-digital syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Bork syndrome","Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome"],"definition":"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1264/","orphanet_url":"https://www.orpha.net/en/disease/detail/1264","names":{"fr":{"name":"Syndrome tricho-rétino-dento-digital","synonyms":["Syndrome de Bork","Syndrome des cheveux incoiffables-dystrophie pigmentaire de la rétine-anomalies dentaires-brachydactylie"],"definition":"Le syndrome tricho-rétino-dento-digital est une dysplasie ectodermique autosomique dominante caractérisée par le syndrome des cheveux incoiffables, une hypotrichose congénitale, et des anomalies dentaires telles qu'une oligodontie ou une hyperdontie. Il est associé à une cataracte précoce, une dystrophie pigmentaire rétinienne et une brachydactylie avec brachymétacarpie. Une hyperactivité et un déficit intellectuel léger ont également été rapportés chez les patients affectés."},"de":{"name":"Tricho-retino-dento-digitales Syndrom","synonyms":["Bork-Syndrom","Unkämmbare Haare - retinale Pigmentdystrophie - Zahnanomalien - Brachydaktylie"],"definition":"Das Tricho-retino-dento-digitale-Syndrom ist ein autosomal-dominant vererbtes Ektodermale-Dysplasie-Syndrom und gekennzeichnet durch nicht kämmbare Haare (siehe dort), kongenitale Hypotrichose und Zahnanomalien wie Oligodontie (siehe dort) oder Hyperdontie, in Verbindung mit früh beginnender Katarakt, Pigmentdystrophie der Netzhaut und Brachydaktylie mit Brachymetakarpie. Auch Hyperaktivität und leichtes intellektuelles Defizit wurde bei den Patienten beschrieben."},"es":{"name":"Síndrome trico-retino-dento-digital","synonyms":["Cabello impeinable-distrofia pigmentaria retiniana-anomalías dentales-braquidactilia","Síndrome de Bork"],"definition":"El síndrome trico-retino-dento-digital es un síndrome de displasia ectodérmica autosómica dominante, que se caracteriza por un síndrome de cabello impeinable (consulte este término), hipotricosis congénita y anomalías dentales como oligodoncia (consulte este término) o hiperdoncia, y asociado con catarata de aparición precoz, distrofia pigmentaria retiniana y braquidactilia con braquimetacarpia. Además, se ha informado de hiperactividad y un déficit intelectual leve en pacientes afectados."},"it":{"name":"Sindrome trico-retinico-dento-digitale","synonyms":["Capelli impettinabili - distrofia retinica pigmentosa - anomalie dentali - brachidattilia","Sindrome di Bork"],"definition":"La sindrome trico-retino-dento-digitale è una condizione autosomica dominante da displasia ectodermica, caratterizzata dalla sindrome dei capelli non pettinabili (si veda questo termine), dall'ipotricosi congenita e dalle anomalie dei denti, compresa l'oligodontia (si veda questo termine) o l'iperdontia, associata a cataratta ad esordio precoce, retinite pigmentosa e brachidattilia con brachimetacarpia. Le persone affette presentano iperattività e lieve deficit cognitivo."},"nl":{"name":"Tricho-retino-dento-digitaal syndroom","synonyms":["Onkambaar haar - retinale pigmentdystrofie - tandanomalieën - brachydactylie-syndroom","Syndroom van Bork"],"definition":"Tricho-retino-dento-digitaalsyndroom is een autosomaal dominant ectodermale dysplasiesyndroom, gekenmerkt door het onkambaar haar-syndroom (zie deze term), aangeboren hypotrichose en tandafwijkingen zoals oligodontie (zie deze term) of hyperdontie en is geassocieerd met vroeg aanvangende cataract, retinale pigmentaire dystrofie en brachydactylie met brachymetacarpie. Verder werden hyperactiviteit en een lichte intellectuele achterstand gemeld bij getroffen patiënten."},"pt":{"name":"Síndrome trico-retino-dento-digital","synonyms":["Síndrome Bork","Síndrome de cabelo impenteável-distrofia pigmentosa da retina-anomalias dentárias-braquidactilia"]},"pl":{"name":"Zespół włosowo-siatkówkowo-zębowo-palcowy","synonyms":["Niedające się uczesać włosy - dystrofia barwnikowa siatkówki - wady zębów - brachydaktylia","Zespół Bork"]},"cs":{"name":"Trichoretinodentodigitální syndrom","synonyms":["Borkův syndrom","Syndrom zahrnující neučesatelné vlasy, retinální pigmentální dystrofii, dentální anomálie a brachydaktylii"]},"uk":{"name":"Трихо-ретино-денто-дігітальний синдром","synonyms":["Синдром Борка","Синдром нерозчисуваного волосся-пігментної дистрофії сітківки-зубних аномалій - брахідактилії"],"definition":"Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients."},"zh":{"name":"毛发-视网膜-牙-指综合征","synonyms":["难梳发-视网膜色素营养不良-牙齿异常-短指综合征"]},"tr":{"name":"Triko-retino-dento-dijital sendromu","synonyms":["Bork sendromu","Aşılamayan saç-retina pigmenter distrofi-diş anomalileri-brakidaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"191482","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"200680230"},{"source":"MONDO","code":"0008622","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536576","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860605","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"938","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"8279493[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8279493[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001118","label":"Juvenile cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030056","label":"Uncombable hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010047","label":"Short 5th metacarpal","frequency":"Occasional (29-5%)","criteria":null}]}}