Connective Tissue
Cleidocranial Dysplasia
Also known as CCD, Scheuthauer-Marie-Sainton disease, RUNX2 haploinsufficiency
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, sku
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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
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1 study is registered for Cleidocranial Dysplasia, but none was recruiting as of 7 Sept 2026. Here is what is still worth doing.
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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
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Cleidocranial Dysplasia. Not eligibility rules; those are set by each study.
- 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.
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).