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Up to: Type 2 collagenopathy · COL2A1-related spondyloepiphyseal dysplasia
Spondyloperipheral dysplasia
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.
This condition has no sub-types.