Cleidocranial Dysplasia Clinical Trials 2026 — Find Recruiting Studies

About Cleidocranial Dysplasia

Cleidocranial dysplasia is caused by haploinsufficiency of RUNX2, the master transcription factor for osteoblast differentiation, resulting in defective intramembranous and endochondral ossification that primarily affects the clavicles, skull, and dentition. The pathognomonic clinical sign is hypoplasia or complete aplasia of the clavicles, enabling patients to approximate the shoulders in front of the chest; delayed closure of cranial sutures produces a large head with persistent fontanelles, and severe dental anomalies including multiple supernumerary teeth and impacted permanent dentition are universal. Intelligence is normal and life expectancy is not significantly reduced, though orthopaedic and dental complications require ongoing management.

Common Clinical Features

Clavicular hypoplasia or aplasia allowing shoulder approximation Delayed or absent closure of cranial sutures and fontanelles Supernumerary teeth and impacted permanent dentition Brachycephaly and frontal, parietal, and occipital bossing Short stature Coxa vara and genu valgum Sinus and middle ear infections from midface hypoplasia

Clinical Trial Eligibility Tips

What to know before applying to Cleidocranial Dysplasia trials.

Dental panoramic radiographs (OPG) documenting supernumerary teeth and retained primary teeth are standard diagnostic evidence and may be requested at screening to confirm clinical diagnosis.

Skeletal survey including chest radiograph (clavicle morphology), skull radiograph (suture patency), and pelvis radiograph should be available as baseline documentation.

RUNX2 molecular testing should confirm a pathogenic variant; approximately 10–30% of clinically diagnosed CCD cases have no identifiable RUNX2 coding variant, and some trials may require confirmed molecular diagnosis.