Other Names for this Disease
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Your QuestionI had craniosynostosis and now my daughter has this disorder. I'd like to know more about the genetics involved with this condition.
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Craniosynostosis is most often sporadic (occurs by chance). 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). 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.
Last updated: 6/6/2011
- Craniosynostosis. Children's Hospital of Wisconsin. 2011; http://www.chw.org/display/router.asp?DocID=22502. Accessed 3/31/2011.
- Boyadjiev SA; International Craniosynostosis Consortium. Genetic analysis of non-syndromic craniosynostosis. Orthodontics and Craniofacial Research. August 2007; 10(3):129-137. http://www.ncbi.nlm.nih.gov/pubmed/17651129. Accessed 3/31/2011.
- Melville H, Wang Y, Taub PJ, Jabs EW. Genetic basis of potential therapeutic strategies for craniosynostosis. American Journal of Medical Genetics. December 2010; 152A(12):3007-3015. http://www.ncbi.nlm.nih.gov/pubmed/21082653. Accessed 3/31/2011.
- Andrew O. M. Wilkie. Craniosynostosis: genes and mechanisms. Human Molecular Genetics. 1997; 6(10):1647-1656. http://hmg.oxfordjournals.org/content/6/10/1647.full.pdf+html. Accessed 3/31/2011.