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Apert syndrome

Pronunciation: ah-par'

Definition: 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

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.