Cleidocranial dysostosis

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(Redirected from Cleidocranial dysplasia)

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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[1].

Clinical Presentation[edit]

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[2].

Genetics[edit]

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[3].

Diagnosis and Management[edit]

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.

Gallery[edit]

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    Cleidocranial dysplasia teeth
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    Cleidocranial dysostosis

See Also[edit]

References[edit]

  1. ↑ "Cleidocranial dysplasia".Orphanet Journal of Rare Diseases.2006;1(1)
    15.doi:10.1186/1750-1172-1-15.PMID:16722557.
  2. ↑ , GeneReviews. online version, University of Washington, Seattle, 2018,
  3. ↑ "CBFA1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development".Cell.1997;89(5)
    765-771.doi:10.1016/S0092-8674(00)80259-7.PMID:9182762.
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NIH genetic and rare disease info[edit]

Cleidocranial dysostosis is a rare disease.

Rare and genetic diseases

Rare diseases - Cleidocranial dysostosis

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