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Spondyloperipheral dysplasia

rare

A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.

Identifiers
MONDO:0010078 OMIM:271700Orphanet:1856
Part of
COL2A1-related spondyloepiphyseal dysplasiaType 2 collagenopathy
Also known as
spondyloperipheral dysplasia-short ulna syndrome

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