Connective Tissue
Campomelic Dysplasia
Also known as campomelic syndrome, SOX9 haploinsufficiency, sex reversal campomelic
Campomelic dysplasia is a severe congenital skeletal dysplasia and disorder of sex development caused by haploinsufficiency of SOX9, a transcription factor critical for chondrogenesis and testicular determination. The hallmark radiographic
0
studies recruiting now
as of 7 Sept 2026
1
studies registered in total
as of 7 Sept 2026
0
countries with a recruiting site
as of 7 Sept 2026
None
recruiting study posted to date
among recruiting studies
Recruiting trials
No recruiting trial found right now.
1 study is registered for Campomelic Dysplasia, but none was recruiting as of 7 Sept 2026. Here is what is still worth doing.
Keep watching
Get an email when a new Campomelic Dysplasia study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
About Campomelic Dysplasia
Campomelic dysplasia is a severe congenital skeletal dysplasia and disorder of sex development caused by haploinsufficiency of SOX9, a transcription factor critical for chondrogenesis and testicular determination. The hallmark radiographic finding is characteristic anterior bowing (campomelia) of the femora and tibiae, accompanied by a small scapulae, 11 pairs of ribs, clubfeet, and a distinctive flat face with Robin sequence; approximately 75% of 46,XY individuals with campomelic dysplasia have partial or complete sex reversal. The condition is lethal in the majority of affected neonates due to respiratory failure from thoracic hypoplasia and laryngotracheomalacia, though long-term survivors have been reported.
Common clinical features
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Campomelic Dysplasia. Not eligibility rules; those are set by each study.
- Most interventional trials in campomelic dysplasia focus on surviving infants and children; respiratory status (ventilator dependence or support requirements) is a critical eligibility criterion.
- Karyotype and gonadal assessment are important baseline data given the high rate of sex reversal in 46,XY patients — this affects hormonal management and may affect trial stratification.
- Molecular confirmation of a pathogenic SOX9 variant (coding or regulatory region) or deletion is required, as campomelia can occur in other skeletal dysplasias and accurate diagnosis is essential.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).