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://www.orphadata.org. Data version April 2024
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Conductive deafness-ptosis-skeletal anomalies syndrome?
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Advocacy Organizations
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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