{"orpha":1383,"name":"Cataract-deafness-hypogonadism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cataract-hearing loss-hypogonadism syndrome","Schaap-Taylor-Baraitser syndrome"],"definition":"Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1383/","orphanet_url":"https://www.orpha.net/en/disease/detail/1383","names":{"fr":{"name":"Syndrome de cataracte-surdité-hypogonadisme","synonyms":["Syndrome de Schaap-Taylor-Baraitser"],"definition":"Le syndrome de cataracte-surdité-hypogonadisme est un syndrome d'anomalies congénitales multiples extrêmement rare, décrit uniquement chez trois frères à ce jour, et caractérisé par l'association d'une cataracte congénitale, une surdité neurosensorielle, un hypogonadisme, un léger déficit intellectuel, une hypertrichose et une petite taille. Il n'y a pas eu de description ultérieure dans la littérature depuis 1995."},"de":{"name":"Katarakt-Schwerhörigkeit-Hypogonadismus-Syndrom","synonyms":["Schaap-Taylor-Baraitser-Syndrom"],"definition":"Das Katarakt-Schwerhörigkeit-Hypogonadismus-Syndrom ist ein extrem seltenes angeborenes Syndrom mit multiplen Anomalien, das bisher nur bei drei Brüdern beschrieben wurde. Es ist gekennzeichnet durch die Assoziation von angeborenem Katarakt, sensorineuraler Taubheit, Hypogonadismus, leichtem intellektuellem Defizit, Hypertrichose und Kleinwuchs. Seit 1995 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Síndrome de catarata-sordera-hipogonadismo","synonyms":["Síndrome de Schaap Taylor Baraitser","Síndrome de catarata-hipoacusia-hipogonadismo"],"definition":"El síndrome de catarata-sordera-hipogonadismo es un síndrome con anomalías congénitas múltiples extremadamente raro, descrito hasta la fecha en tan sólo tres hermanos varones, que se caracteriza por la asociación de catarata congénita, sordera neurosensorial, hipogonadismo, déficit intelectual leve, hipertricosis y talla baja. No se han descrito más casos en la bibliografía desde 1995."},"it":{"name":"Cataratta - sordità - ipogonadismo","synonyms":["Sindrome di Schaap-Taylor-Baraitser"],"definition":"La sindrome catarata-sordità-ipogonadismo è una sindrome molto rara da difetti congeniti multipli, descritta in tre fratelli. E' caratterizzata dall'associazione tra cataratta congenita, sordità neurosensoriale, ipogonadismo, lieve deficit intellettivo, ipertricosi e bassa statura. Non sono stati descritti nuovi casi dopo il 1995."},"nl":{"name":"Cataract - doofheid - hypogonadisme-syndroom","synonyms":["Schaap-Taylor-Baraitsersyndroom"],"definition":"Cataract - doofheid - hypogonadisme-syndroom is een uiterst zeldzaam syndroom met meervoudige aangeboren afwijkingen. Dit syndroom werd tot op heden bij slechts drie broers beschreven en wordt gekenmerkt wordt door de associatie van aangeboren cataract, perceptieve doofheid, hypogonadisme, een milde intellectuele achterstand, hypertrichose en een kleine gestalte. Sinds 1995 zijn er geen verdere omschrijvingen in de literatuur."},"pt":{"name":"Síndrome de catarata-surdez-hipogonadismo","synonyms":["Síndrome Schaap-Taylor-Baraitser"]},"pl":{"name":"Zaćma - głuchota - hipogonadyzm","synonyms":["Zespół Schaapa, Taylora i Baraitsera"]},"cs":{"name":"Syndrom zahrnující kataraktu, hluchotu a hypogonadismus","synonyms":["Schaapův-Taylorův-Baraitserův syndrom","Schaap-Taylor-Baraitserův syndrom"]},"uk":{"name":"Синдром катаракти-глухоти-гіпогонадизму","synonyms":["Синдром катаракти-глухоти-гіпогонадизму","Синдром Шаапа-Тейлора-Барайзера"],"definition":"Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995."},"zh":{"name":"白内障-耳聋-性腺机能减退综合征","synonyms":["白内障-听力丧失-性腺功能减退综合征"]},"tr":{"name":"Katarakt-sağırlık-hipogonadizm sendromu","synonyms":["Schaap-Taylor-Baraitser sendromu","Katarakt-işitme kaybı-hipogonadizm sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"144313946"},{"source":"MONDO","code":"0015325","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536626","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931269","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"248","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8574417[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8574417[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-21","source":"8574417[PMID]","terms":[{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004554","label":"Generalized hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null}]}}