{"orpha":3236,"name":"Conductive deafness-ptosis-skeletal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Conductive hearing loss-ptosis-skeletal anomalies syndrome","Jackson-Barr syndrome"],"definition":"Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3236/","orphanet_url":"https://www.orpha.net/en/disease/detail/3236","names":{"fr":{"name":"Syndrome de surdité-ptosis-anomalies squelettiques","synonyms":["Syndrome de Jackson-Barr"],"definition":"Le syndrome de surdité-ptosis-anomalies squelettiques est un syndrome de dysplasie ectodermique génétique rare, caractérisé par une perte auditive due à une atrésie du canal auditif externe et de l'oreille interne, compliquée par une infection chronique, un ptosis et des anomalies squelettiques (rotation interne des hanches, luxation des têtes radiales, clinodactylie du cinquième doigt). Les signes additionnels incluent un nez fin et pincé, un retard de croissance des cheveux et une dysplasie dentaire. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1978."},"de":{"name":"Schallleitungsschwerhörigkeit-Ptosis-Skelettanomalien-Syndrom","synonyms":["Jackson-Barr-Syndrom"],"definition":"Das Jackson-Barr-Syndrom ist eine seltene, genetisch bedingte ektodermale Dysplasie charakterisiert durch eine Schallleitungsschwerhörigkeit aufgrund einer Atresie des äußeren Gehörgangs sowie des Mittelohrs, welche durch chronische Infektionen verkompliziert wird. Es treten eine Ptosis und Skelettanomalien (Innenrotation der Hüfte, Dislokation der Radiusköpfchen und Klinodaktylie des fünften Fingers) auf. Zusätzlich assoziiert werden eine schmale, enge Nase, ein verzögertes Haarwachstum sowie dysplastische Zähne. Seit 1978 gab es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de sordera conductiva-ptosis-anomalías esqueléticas","synonyms":["Síndrome de Jackson-Barr","Síndrome de hipoacusia conductiva-ptosis-anomalías esqueléticas"],"definition":"El síndrome de sordera conductiva-ptosis-anomalías esqueléticas es un síndrome genético poco frecuente de displasia ectodérmica caracterizado por pérdida auditiva conductiva debida a atresia del canal auditivo externo y del oído medio complicada por infecciones crónicas, ptosis y anomalías esqueléticas (rotación interna de las caderas, dislocación de las cabezas radiales y clinodactilia del quinto dedo). Además, está asociado a una nariz delgada y picuda, retraso del crecimiento del cabello y dientes displásicos. No se han descrito nuevos casos en la literatura desde 1978."},"it":{"name":"Sordità - ptosi - anomalie scheletriche","synonyms":["Sindrome di Jackson-Barr"],"definition":"La sordità di conduzione-ptosi-anomalie scheletriche è una displasia ectodermica genetica rara, caratterizzata da sordità di tipo conduttivo secondaria all'atresia del canale uditivo esterno e dell'orecchio medio, complicata da infezioni croniche, ptosi e anomalie scheletriche (rotazione interna delle anche, dislocazione delle teste del radio e clinodattilia del quinto dito). Altri segni sono il naso sottile e appuntito, il ritardo nella crescita dei capelli/peli e la displasia dei denti. Non sono stati descritti nuovi casi dopo il 1978."},"nl":{"name":"Conductieve doofheid - ptosis - skeletanomalieën-syndroom","synonyms":["Conductief gehoorverlies - ptosis - skeletanomalieën-syndroom","Syndroom van Jackson-Barr"],"definition":"Conductieve doofheid - ptose - skeletale anomalieën syndroom is een zeldzaam, genetisch ectodermale dysplasie-syndroom dat wordt gekarakteriseerd door conductief gehoorverlies als gevolg van atresie van de uitwendige gehoorgang en het middenoor, en gecompliceerd wordt door chronische infectie, ptose en skeletale anomalieën (interne rotatie van de heupen, ontwrichting van de radiuskoppen en clinodactylie van de vijfde vinger). Bijkomend zijn een smalle, ingedrukte neus, vertraagde haargroei en dysplastische tanden geassocieerd. Sinds 1978 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de surdez de transmissão-ptose-anomalias esqueléticas","synonyms":["Síndrome Jackson-Barr","Síndrome de perda auditiva de transmissão-ptose-anomalias esqueléticas"]},"pl":{"name":"Głuchota przewodzeniowa - ptoza - anomalie szkieletowe","synonyms":["Zespół Jacksona i Barra"]},"cs":{"name":"Syndrom zahrnující převodní hluchotu, ptózu a anomálie skeletu","synonyms":["Jacksonův-Barrův syndrom","Jackson-Barrův syndrom"]},"uk":{"name":"Синдром кондуктивної глухоти-птозу-скелетних аномалій","synonyms":["Синдром кондуктивної приглухуватості - птоз - скелетні аномалії","Синдром Джексона-Барра"],"definition":"Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978."},"zh":{"name":"传导性耳聋-睑下垂-骨骼畸形综合征","synonyms":["传导性听力丧失-上睑下垂-骨骼异常综合征"]},"tr":{"name":"Kondüktif sağırlık-pitozis-iskelet anomalileri sendromu","synonyms":["Jackson-Barr sendromu","İletim tipi işitme kaybı-pitozis-iskelet anomalileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"221320","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":"1707474724"},{"source":"MONDO","code":"0009084","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535993","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857340","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"305","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"728561[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_728561[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008773","label":"Aplasia/Hypoplasia of the middle ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null}]}}