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
Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.
Search Stedman's Medical Dictionary
Examples: glitazone, GI cocktail, etc.