Conductive deafness-ptosis-skeletal anomalies syndrome

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Conductive deafness-ptosis-skeletal anomalies syndrome

Synonyms: Conductive hearing loss-ptosis-skeletal anomalies syndrome | 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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