Spondyloperipheral dysplasia

Definition

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.

Also known as spondyloperipheral dysplasia, spondyloperipheral dysplasia-short ulna syndrome — per MONDO

Also identified as

• DOID 0112195 per MONDO
• ICD9 758.89 per MONDO
• MESH C535799 per MONDO
• NCIT C135088 per MONDO
• OMIM 271700 per MONDO
• Orphanet 1856 per MONDO
• SCTID 702339001 per MONDO
• UMLS C0796173 per MONDO