Cleidocranial Dysplasia or Dysostosis

The most common features of  cleidocranial dysplasia/ dysostosis are among others:

  • patency of the anterior fontanelle,
  • an inverted pear-shaped skull,
  • hypertelorism (wide-spaced eyes),
  • general backward placement of the middle of the face,
  • a lower jaw prognathism,
  • excessive mobility of the shoulders, due to aplasia or hypoplasia of the clavicles,
  • a short stature,  
  • and teeth abnormalities such as supernumerary teeth and failure of eruption, in particular.

Mutation in the gene RUNX2, on the short arm of chromosome 6, is known to cause CCD. Mutations are detected in only about 65% of all individuals with a clinical diagnosis of CCD.

Cleidocranial dysplasia is an autosomal dominant disorder. Its prevalence is estimated 1:1,000,000.
Last modified
21 January 2020
Abbreviation
CCD
OMIM

# 119600 Cleidocranial Dysplasia

ORPHA

ORPHA:1452

General Medical Guideline

Cleidocranial Dysplasia / Dysostosis

CCD is a complex congenital disease with skeletal anomalies and irregular dentition.
Symptom

Teeth failure of eruption

Failure of eruption of teeth in CCD may need orthodontic treatment

Multiple impacted teeth

Delayed exchange of primary teeth by permanent teeth, complicated by multiple impacted permanent and supernumerary teeth combined with severe malocclusion and crossbite, may need treatment...

Anterior fontanelle persists

Closure of the anterior fontanelle and sagittal and metopic sutures is delayed as part of the skeletal dysplasia in cleidocranial dysostosis.

Cleidocranial Dysplasia in family

CCD is an autosomal dominant condition. This means that family members can be affected. Each affected family member will have the same mutation (change in...