Cleidocranial dysostosis

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Cleidocranial dysostosis
Synonyms	Cleidocranial dysplasia, Marie-Sainton syndrome
Pronounce
Specialty	Medical genetics
Symptoms	Delayed closure of cranial sutures, absent clavicles, dental abnormalities
Complications	Hearing loss, scoliosis, respiratory issues
Onset	Congenital
Duration	Lifelong
Types
Causes	Genetic mutation in the RUNX2 gene
Risks
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Pycnodysostosis, osteogenesis imperfecta
Prevention
Treatment	Orthodontic treatment, surgery
Medication
Prognosis	Generally good with treatment
Frequency	1 in 1,000,000
Deaths

Cleidocranial dysostosis (CCD), also known as Cleidocranial dysplasia, is a rare genetic disorder primarily affecting bone and dental development. It is inherited in an autosomal dominant manner, typically resulting from mutations in the RUNX2 gene<ref>,

 Cleidocranial dysplasia, 
 Orphanet Journal of Rare Diseases, 
 2006,
 Vol. 1(Issue: 1),
 pp. 15,
 DOI: 10.1186/1750-1172-1-15,
 PMID: 16722557,</ref>.

Clinical Presentation

Characteristics of CCD include skeletal and dental abnormalities. The most characteristic features are underdeveloped or absent clavicles (collar bones), which results in individuals being able to bring their shoulders together in front of their body. Dental anomalies, including delayed loss of primary teeth and delayed eruption of secondary teeth, are common. Other features include delayed or incomplete closure of the fontanelles, a prominent forehead, wide-set eyes (hypertelorism), a flat nose, and a short stature. Spinal abnormalities, such as scoliosis, may also occur<ref>,

 GeneReviews. online version, 
  
 University of Washington, Seattle, 
 2018,</ref>.

Genetics

CCD is caused by mutations in the RUNX2 gene, located on chromosome 6p21. RUNX2 is essential for the development of osteoblasts, the cells responsible for bone formation<ref>,

 CBFA1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development, 
 Cell, 
 1997,
 Vol. 89(Issue: 5),
 pp. 765-771,
 DOI: 10.1016/S0092-8674(00)80259-7,
 PMID: 9182762,</ref>.

Diagnosis and Management

Diagnosis of CCD is primarily based on clinical examination and radiographic findings, but can be confirmed by genetic testing. Management of CCD is mainly supportive and involves a multidisciplinary approach, including orthopedic management for skeletal anomalies and dental interventions for oral health.

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See Also

• RUNX2
• Autosomal dominant
• Osteoblast
• Scoliosis

References

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NIH genetic and rare disease info

• NIH info on Cleidocranial dysostosis

Cleidocranial dysostosis is a rare disease.