Cleidocranial dysostosis

Cleidocranial dysostosis (CCD), also known as cleidocranial dysplasia, is a rare skeletal dysplasia with predominantly membranous bone involvement, which carries an autosomal dominant inheritance 4.

  • large head, with large fontanelles with delayed closure
  • broad mandible
  • supernumerary teeth
  • high arched palate
  • neonatal distress due to thorax being narrowed and bell shaped
  • excessively mobile and drooping shoulders
  • may have genu valgum and short fingers

It is a rare polyostotic skeletal dysplasia caused by a mutation in CBFA1 gene in AD inherited or sporadic mutation pattern (in approximately 40%) which is characterized by incomplete intramembranous ossification of midline skeletal structures inclusive of the clavicle as well as a defective development of the pubic bones, vertebral column, and long bones 5.

  • hypoplasia of iliac bones
  • absent/delayed ossification of the pubic bone creating the appearance of a pseudo-widening of the symphysis pubis

Article information

rID: 10472
Synonyms or Alternate Spellings:
  • Craniocleidodysostosis
  • Cleidocranial dysplasia
  • Marie-Sainton disease

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Cases and figures

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