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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
General
developmental bone disorder
genetic disease of bone/skeletal system
polyalanine expansion disorder
Database Correlations
OMIM correlations
MORBIDMAP 600211
References
- OMIM :accession 119600
- Brown & Brown. Trends in Genetics 20(1):51-58, 2004
PMID: 14698619