font size

Definition of Apert syndrome

Apert syndrome: A malformation syndrome characterized by a high short skull, underdevelopment of the midface, soft tissue and bony ("mitten glove") fusion of fingers and toes, fusion of the neck vertebrae, and varying degrees of developmental delay/mental retardation. The frequency of the syndrome rises with the age of the father reflecting the fact that the mutation rate among males rises with their age. Moreover, the mutation that causes Apert syndrome affords the sperm a selective advantage. The mutation is in the gene for fibroblast growth factor receptor 2 (FGFR2) on chromosome 10. Different mutations in FGFR2 are also responsible for two other similar genetic diseases, namely, Pfeiffer syndrome and Crouzon syndrome. See also: Acrocephalosyndactyly.

Source: MedTerms™ Medical Dictionary
http://www.medicinenet.com/script/main/art.asp?articlekey=6575
Last Editorial Review: 8/28/2013

Drug Medical Dictionary of Terms by Letter

Top RxList Drug News

advertisement
advertisement
Use Pill Finder Find it Now See Interactions

Pill Identifier on RxList

  • quick, easy,
    pill identification

Find a Local Pharmacy

  • including 24 hour, pharmacies

Interaction Checker

  • Check potential drug interactions
Search the Medical Dictionary for Health Definitions & Medical Abbreviations

NIH talks about Ebola on WebMD