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Conductive deafness-ptosis-skeletal anomalies syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Conductive hearing loss-ptosis-skeletal anomalies syndrome
    • Jackson-Barr syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: No data available
  • ICD-10: Q82.4
  • ICD-11: LD27.0Y
  • OMIM: 221320
  • UMLS: C1857340
  • MeSH: C535993
  • GARD: 305
  • MedDRA: -
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