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 DNA) still may have different symptoms.

Last modified
21 January 2020
HPO
HP:0000006 Autosomal dominant inheritance
Feature

When a parent transmits a disease to his or her children the disease may be an autosomal dominant disorder. The cause can be found in genes. An abnormal gene...

Rare Condition

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...