Kleidokraniale Dysplasie

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

Clinical presentation

  • 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 .

Radiographic features

Plain radiograph
  • hypoplasia of iliac bones
  • absent/delayed ossification of the pubic bone creating the appearance of a pseudo-widening of the symphysis pubis
  • short/absent fibula
  • short/absent radius
  • coxa vara
  • hypoplastic terminal phalanges
  • pseudoepiphysis of metacarpals and metatarsal bones
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