cleidocranial dysplasia

Pathology

• skeletal disorder
• defective endochondral & intramembranous bone formation

Genetics

• autosomal dominant
• associated with mutations (point mutations, single base insertions, alanine repeat expansion) in RUNX2 (CBFA1) gene
• high penetrance & variable expressivity

Clinical manifestations

• hypoplasia/aplasia of clavicles
• patent fontanelles
• wormian bones (additional cranial plates caused by abnormal ossification of the calvaria)
• supernumerary teeth
• short stature
• other skeletal changes
• in some cases, dental anomalies are only manifestations

More general terms

• developmental bone disorder
• genetic disease of bone/skeletal system
• polyalanine expansion disorder

Database

• OMIM: https://mirror.omim.org/entry/119600
• OMIM: https://mirror.omim.org/entry/600211