Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Malformation syndrome Synonyms Conductive hearing loss-ptosis-skeletal anomalies syndrome Zespół Jacksona i Barra Jackson-Barr syndrome ORPHA code 3236 OMIM code 221320 ICD10 code Q82.4 ICD11 code LD27.0Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl