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COL2A1-related spondyloepiphyseal dysplasia

MONDO:0100602

Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes.

3 clinical trials for this condition and its sub-types, 0 tagged with COL2A1-related spondyloepiphyseal dysplasia itself.

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Where it sits in the disease tree

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↑ Spondyloepiphyseal dysplasia (8) ↑ Spondyloepimetaphyseal dysplasia (4)

Sub-types of COL2A1-related spondyloepiphyseal dysplasia

Stickler syndrome type 1 3 trials
1 sub-type
- Stickler syndrome, type I, nonsyndromic ocular 0 trials
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 0 trials
Spondyloepiphyseal dysplasia congenita 0 trials
Spondyloepiphyseal dysplasia with metatarsal shortening 0 trials
Spondyloepiphyseal dysplasia, Stanescu type 0 trials
Spondyloperipheral dysplasia 0 trials

Including sub-types (3) Tagged with COL2A1-related spondyloepiphyseal dysplasia (0)

Trials to join now! 1 Not yet finished but already full! 2

Laser eye surgery could prevent blindness in rare genetic condition

Prevention Recruiting now

This study tests a laser treatment called OSC/SS to prevent retinal detachment in people with Stickler Syndrome, a genetic condition that raises the risk of vision loss. About 500 children and adults will receive the procedure in one or both eyes and be followed for 5 years. Rese…

Sponsor: Helen Keller Eye Research Foundation • Aim: Prevention

Last updated Jul 03, 2026 00:00 UTC