Autosomal dominant otospondylomegaepiphyseal dysplasia
Name: |
Autosomal dominant otospondylomegaepiphyseal dysplasia
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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.
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ORPHAcode: |
166100
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Synonyms: |
AD OSMED
Stickler syndrome type 3
Stickler syndrome, non-ocular type
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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