disease has major feature Conductive hearing impairment conductive deafness-ptosis-skeletal anomalies syndrome https://www.malacards.org/card/deafness_conductive_with_ptosis_and_skeletal_anomalies Jackson-Barr syndrome MONDO:0009084 Orphanet:3236 deafness conductive ptosis skeletal anomalies SCTID:763213001 UMLS:C1857340 MESH:C535993 GARD:0000305 Jackson Barr syndrome 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. OMIM:221320 MEDGEN:347428 ectodermal dysplasia syndrome