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Multiple epiphyseal dysplasia, Beighton type

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Name:
Multiple epiphyseal dysplasia, Beighton type
Description:
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain.
ORPHAcode:
166011
Synonyms:
Multiple epiphyseal dysplasia-myopia-deafness syndrome
Multiple epiphyseal dysplasia-myopia-hearing loss syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
COL2A1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14