Cleidocranial dysostosis

Last revised by Yahya Baba on 29 Jun 2023

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 the 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 the 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

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