conductive deafness-ptosis-skeletal anomalies 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.
MONDO:0019287
ectodermal dysplasia syndrome
is_a
Jackson Barr syndrome
related
Jackson-Barr syndrome
exact
deafness conductive ptosis skeletal anomalies
related