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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Craniosynostosis


Other Names for this Disease

  • Craniostenosis
  • CSO
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Your Question

I had craniosynostosis and now my daughter has this disorder. I'd like to know more about the genetics involved with this condition.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is craniosynostosis inherited?

Craniosynostosis is most often sporadic (occurs by chance).[1] Most often it occurs as an isolated (non-syndromic) condition that has the characteristics of a multifactorial trait (a feature likely caused by the interaction of several genes with environmental factors, most of which are unknown).[2] However, in some families, craniosynostosis may be inherited in one of two ways:
  • autosomal recessive - Autosomal recessive means that two copies of the gene are necessary to express the condition, one inherited from each parent, who are carriers. Carrier parents have a one in four, or 25 percent, chance with each pregnancy, to have a child with craniosynostosis. Males and females are equally affected.
  • autosomal dominant - Autosomal dominant means that one gene is necessary to express the condition, and the gene is passed from parent to child with a 50/50 risk for each pregnancy. Males and females are equally affected.[1]
Craniosynostosis can also be a feature of many different genetic syndromes that have a variety of inheritance patterns and chances for reoccurrence, depending on the specific syndrome present.[1] Syndromic craniosynostosis is present in about 15% of individuals with the condition.[3] It is important for the child as well as family members to be examined carefully for signs of a syndromic cause (inherited genetic disorder) of craniosynostosis such as limb defects, ear abnormalities, or cardiovascular malformations.[1] Some of the more common genetic syndromes associated with craniosynostosis include Crouzon syndrome, Apert syndrome, Pfeiffer syndrome and Saethre-Chotzen syndrome.[4]
Last updated: 6/6/2011

References
Other Names for this Disease
  • Craniostenosis
  • CSO
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.