{"orpha":3218,"name":"Deafness-epiphyseal dysplasia-short stature syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Chitty-Hall-Baraitser syndrome","Hearing loss-epiphyseal dysplasia-short stature syndrome"],"definition":"A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3218/","orphanet_url":"https://www.orpha.net/en/disease/detail/3218","names":{"fr":{"name":"Syndrome de surdité-dysplasie épiphysaire-petite taille","synonyms":["Syndrome de Chitty-Hall-Baraitser"],"definition":"Surdité génétique syndromique rare, caractérisée par une surdité de perception bilatérale congénitale profonde, un retard de développement, une déficience intellectuelle modérée, un retard généralisé de la maturation osseuse, une petite taille, une dysplasie épiphysaire, en particulier des épiphyses fémorales capitales, et une légère dysmorphie faciale, à savoir, un front proéminent et un menton petit et pointu. Une obstruction bilatérale des canaux lacrymaux et des hernies inguinales et ombilicales ont également été décrites."},"de":{"name":"Schwerhörigkeit-epiphysäre Dysplasie-Kleinwuchs-Syndrom","synonyms":["Chitty-Hall-Baraitser-Syndrom"],"definition":"Eine seltene syndromale Form der genetisch bedingten Schwerhörigkeit, die durch eine ausgeprägte kongenitale beidseitige sensorineurale Taubheit, Entwicklungsverzögerung, mäßige Intelligenzminderung, allgemeine Verzögerung der Knochenreifung, Kleinwuchs, Epiphysendysplasie, insbesondere der großen Oberschenkelepiphyse, und leichte Gesichtsdysmorphien wie eine vorstehende Stirn und ein kleines, spitzes Kinn gekennzeichnet ist. Auch eine bilaterale Obstruktion der Tränenkanäle sowie Leisten- und Nabelbrüche sind beschrieben worden."},"es":{"name":"Síndrome de sordera-displasia epifisaria-talla baja","synonyms":["Síndrome de Chitty-Hall-Baraitser","Síndrome de hipoacusia-displasia epifisaria-talla baja"],"definition":"Es una sordera sindrómica de base genética y poco frecuente caracterizada por sordera congénita neurosensorial profunda, bilateral, retraso psicomotor, discapacidad intelectual moderada, retraso generalizado de la maduración ósea, talla baja, displasia epifisaria, especialmente de las epífisis capitales femorales, y rasgos faciales dismórficos leves, como frente prominente y mentón pequeño y puntiagudo. También se ha descrito obstrucción bilateral de los conductos lagrimales y hernias inguinales y umbilicales."},"it":{"name":"Sindrome sordità-displasia epifisaria-bassa statura","synonyms":["Sindrome di Chitty-Hall-Baraitser"],"definition":"Si tratta di una sordità genetica sindromica rara, caratterizzata da sordità neurosensoriale profonda congenita bilaterale, ritardo dello sviluppo, disabilità intellettiva moderata, ritardo generalizzato della maturazione ossea, bassa statura, displasia epifisaria (in particolare delle epifisi della testa del femore) e dismorfismi facciali sfumati (fronte prominente e mento piccolo e appuntito). I pazienti possono presentare un'anche ostruzione bilaterale dei dotti lacrimali ed ernie inguinali e ombelicali."},"nl":{"name":"Doofheid - epifysaire dysplasie - kleine gestalte-syndroom","synonyms":["Gehoorverlies - epifysaire dysplasie - kleine gestalte-syndroom","Syndroom van Chitty-Hall-Baraitser"],"definition":"Een zeldzame syndromale genetische doofheid, gekarakteriseerd door zeer ernstige congenitale bilaterale sensorineurale doofheid, ontwikkelingsachterstand, matige intellectuele achterstand, gegeneraliseerde vertraging van botmaturatie, kleine gestalte, epifysaire dysplasie van vooral proximale epifysen van femur, en milde dysmorfe gelaatskenmerken zoals prominent voorhoofd en kleine, puntige kin. Bilaterale obstructie van afvoergangen van traanklieren, en lies- en navelbreuken werden ook reeds beschreven."},"pt":{"name":"Síndrome de surdez-displasia epifisária-baixa estatura","synonyms":["Síndrome de perda auditiva-displasia epifisária-baixa estatura"]},"pl":{"name":"Głuchota - dysplazja nasadowa - niski wzrost","synonyms":["Zespół Chitty, Halla i Baraitsera"]},"cs":{"name":"Syndrom zahrnující hluchotu, epifyzární dysplázii a malý vzrůst","synonyms":["Chittyho-Hallův-Baraitserův syndrom","Chitty-Hall-Baraitserův syndrom"]},"uk":{"name":"Синдром глухоти-епіфізарної дисплазії-низькорослості","synonyms":["Синдром Чітті-Холла-Барайзера","Синдром втрати слуху - епіфізарної дисплазії - низького зросту"],"definition":"A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described."},"zh":{"name":"耳聋-骨骺发育异常-矮小综合征","synonyms":["听力丧失-骨骺发育不良-身材矮小综合征"]},"tr":{"name":"Sağırlık-epifiz displazisi-kısa boy sendromu","synonyms":["Chitty-Hall-Baraitser sendromu","İşitme kaybı-epifiz displazisi-kısa boy sendromu"]}},"xrefs":[{"source":"OMIM","code":"601351","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1692558024"},{"source":"MONDO","code":"0011047","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535928","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832438","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1688","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8867655[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8867655[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006499","label":"Abnormality of femoral epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000579","label":"Nasolacrimal duct obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null}]}}