Cleidocranial dysplasia

Cleidocranial dysplasia (CCD), also known as cleidocranial dysostosis or Marie-Sainton disease, is a rare skeletal disorder characterized by defective development of bones, particularly those formed through membranous ossification. It is caused by mutations in the RUNX2 gene (also called CBFA1), located on chromosome 6p21, which encodes a transcription factor essential for osteoblast differentiation and bone formation. The condition affects multiple body systems, most notably the skeletal system and dentition. The hallmark features of cleidocranial dysplasia include hypoplastic or absent clavicles (collarbones), which allow affected individuals to approximate their shoulders anteriorly in a characteristic fashion. Skull abnormalities are prominent and include delayed closure of cranial sutures and fontanelles, which may remain open throughout life, as well as frontal and parietal bossing, giving the head a broad appearance. Dental abnormalities are a major clinical concern and include delayed eruption or failure of eruption of permanent teeth, supernumerary (extra) teeth, and retention of primary (deciduous) teeth. Other skeletal features may include short stature, a wide pubic symphysis, brachydactyly, scoliosis, and other vertebral anomalies. Hearing loss may also occur due to structural abnormalities of the ossicles or external ear canal. There is currently no cure for cleidocranial dysplasia, and management is multidisciplinary. Dental care is often the most significant aspect of treatment, frequently requiring surgical-orthodontic interventions to remove supernumerary teeth and facilitate eruption of permanent teeth. Orthopedic monitoring is important for skeletal complications. Hearing assessments should be performed regularly. Protective headgear may be recommended in young children with widely open fontanelles. Genetic counseling is advised for affected families, as approximately one-third of cases arise from de novo mutations with no prior family history.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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