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Pfeiffer syndrome

Pronunciation: fi'fer

Definition: disorder characterized by broad, short thumbs and great toes, often with duplication of the great toes, and variable syndactyly of the digits; craniosynostosis is a variable feature. Autosomal dominant inheritance, caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1) on chromosome 8p or FGFR2 gene on 10q.

Synonym(s): acrocephalosyndactyly type V, Noack syndrome

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