Autosomal dominant otospondylomegaepiphyseal dysplasia

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Name:
Autosomal dominant otospondylomegaepiphyseal dysplasia
Description:
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
ORPHAcode:
166100
Synonyms:
AD OSMED
Stickler syndrome type 3
Stickler syndrome, non-ocular type
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14