Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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 Klasyfikacja Malformation syndrome Synonimy Conductive hearing loss-ptosis-skeletal anomalies syndrome Zespół Jacksona i Barra Jackson-Barr syndrome Kod ORPHA 3236 Kod OMIM 221320 Kod ICD10 Q82.4 Kod ICD11 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