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
Clinical Trial Eligibility Tips
What to know before applying to Campomelic Dysplasia trials.
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.
Patient Resources
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