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Otospondylomegaepiphyseal dysplasia

Disease Export to PDF
Name:
Otospondylomegaepiphyseal dysplasia
Description:
Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
ORPHAcode:
1427
Synonyms:
OSMED
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
COL11A2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14