Last update 01 Nov 2024

Deafness Conductive Ptosis Skeletal Anomalies

Basic Info

Synonyms
Conductive deafness, ptosis, skeletal anomalies syndrome, Conductive deafness, ptosis, skeletal anomalies syndrome (disorder), Conductive deafness-ptosis-skeletal anomalies syndrome
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Introduction
A rare genetic ectodermal dysplasia syndrome with characteristics of 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.

Analysis

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