Skip to Content
Medical Term:

Apert syndrome

Pronunciation: ah-par'


disorder characterized by craniosynostosis and syndactyly of all the fingers and usually the toes as well; the thumbs are free; mental retardation is a variable feature. Autosomal dominant mutation with most cases sporadic, caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2) on 10q.

Synonym(s): acrocephalosyndactyly type I

See Also: acrocephalosyndactyly

© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.