Genetics of Craniosynostosis

Kimonis, Virginia; Gold, June-Anne; Hoffman, Trevor L.; Panchal, Jayesh; Boyadjiev, Simeon A.

doi:10.1016/j.spen.2007.08.008

« PreviousSeminars in Pediatric Neurology
Volume 14, Issue 3 , Pages 150-161, September 2007

Genetics of Craniosynostosis

Virginia Kimonis, MD, MRCP
- Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, CA.
- VK and JAG are supported in part by R01 DEO16886 from NIDCD, and R01AR050236 from NIAMS, National Institutes of Health.
- Address reprint requests to Virginia Kimonis, MD, MRCP, University of California, Irvine, Division of Genetics and Metabolism, Department of Pediatrics, 101 The City Drive, ZOT 4482, Orange, CA 92868.
June-Anne Gold, MD, MRCPCH
- Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, CA.
- VK and JAG are supported in part by R01 DEO16886 from NIDCD, and R01AR050236 from NIAMS, National Institutes of Health.
Trevor L. Hoffman, MD, PhD
- Department of Developmental and Cell Biology, University of California, Irvine, CA.
Jayesh Panchal, MD, MBA
- Department of Surgery, University of Oklahoma, Oklahoma City, OK.
Simeon A. Boyadjiev, MD
- Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, CA.
- SAB is partially funded through a Children’s Miracle Network Endowed Chair and through grants K23 DE00462, R03 DE016342, and R01 DE016886 from NIDCD/NIH and M01-RR00052 from NCRR/NIH.

Craniosynostosis is a defect of the skull caused by early fusion of one or more of the cranial sutures and affects 3 to 5 individuals per 10,000 live births. Craniosynostosis can be divided into two main groups: syndromic and nonsyndromic. Nonsyndromic craniosynostosis is typically an isolated finding that is classified according to the suture(s) involved. Syndromic craniosynostosis is associated with various dysmorphisms involving the face, skeleton, nervous system, and other anomalies and is usually accompanied by developmental delay. More than 180 syndromes exist that contain craniosynostosis. Secondary effects of craniosynostosis may include vision problems and increased intracranial pressure, among others. The molecular basis of many types of syndromic craniosynostosis is known, and diagnostic testing strategies will often lead to a specific diagnosis.