Conductive deafness-ptosis-skeletal anomalies syndrome

Orpha code: 3236OMIM code: 221320

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.

Disease data
Classification

Malformation syndrome

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

No additional description.

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