Conductive deafness-ptosis-skeletal anomalies syndrome

Orpha code: 3236OMIM code: 221320

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Conductive hearing loss-ptosis-skeletal anomalies syndrome
Zespół Jacksona i Barra
Jackson-Barr syndrome
Kod ORPHA
3236
Kod OMIM
221320
Kod ICD10
Q82.4
Kod ICD11
LD27.0Y

No additional description.

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