Spondyloperipheral dysplasia

MONDO:0010078

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, spondyloperipheral dysplasia with short ulna

1 clinical trial for this condition and its sub-types, 0 tagged with Spondyloperipheral dysplasia itself.

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Where it sits in the disease tree

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Part of

↑ Type 2 collagenopathy (39) ↑ COL2A1-related spondyloepiphyseal dysplasia (3)

Including sub-types (1) Tagged with Spondyloperipheral dysplasia (0)

Trials to join now! 1

New knee system aims to improve mobility after failed replacement

Disease control Recruiting now

This study is testing a new knee replacement system called Persona Revision for people who need a second knee replacement surgery. The goal is to see if it improves knee function, reduces pain, and is safe. About 380 adults will be followed for two years after surgery.

Sponsor: Zimmer Biomet • Aim: Disease control

Last updated Jul 12, 2026 00:00 UTC

Spondyloperipheral dysplasia

Where it sits in the disease tree

New knee system aims to improve mobility after failed replacement