Is craniosynostosis inherited?

Craniosynostosis that involves only one suture and is an isolated abnormality typically is not inherited, occurring sporadically in people with no family history of craniosynostosis. More rarely, isolated craniosynostosis is caused by a mutation in any of several genes, with autosomal dominant inheritance.

In contrast, craniosynostosis that involves multiple sutures is more often one feature of a genetic syndrome with additional abnormalities that may affect multiple parts of the body. Most of the genetic syndromes that are associated with craniosynostosis also have autosomal dominant inheritance. However, they are often caused by a new ( de novo ) mutation in a person, rather than inherited from a parent with the syndrome. In either case, a person with an autosomal dominant syndrome has a 50% chance to pass the syndrome on to each of his/her children.

Craniosynostosis has been described in more than 150 different syndromes, but those most frequently associated with craniosynostosis include Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, Carpenter syndrome (which is autosomal recessive), and Saethre-Chotzen syndrome.

Last updated on 05-01-20

Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: Url:
Name: Children's Craniofacial Association 13140 Coit Road Suite 517
Dallas, TX, 75240 , United States
Phone: +1-214-570-9099 Toll Free: 1-800-535-3643 Fax : +1-214-570-8811 Email: Url:
Name: World Craniofacial Foundation P.O. Box 515838
Dallas, TX, 75251-5838, United States
Phone: 972-566-6669 Toll Free: 800-533-3315 Fax : 972-566-3850 Email: Url:
Name: Headlines Craniofacial Support PO Box 13595 LINLITHGOW
EH49 9BD
United Kingdom
Phone: +44 (0)7500 778965 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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