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Saethre-Chotzen syndrome

Pronunciation: sayt're chot'zen

Definition: condition characterized by craniosynostosis, asymmetry of skull (plagiocephaly), ptosis, prominent ear crus, and cutaneous syndactyly of fingers 2–3 and toes 3–4; autosomal dominant inheritance, caused by mutation in the TWIST transcription factor gene on chromosome 7p.

Synonym(s): acrocephalosyndactyly type III, Chotzen syndrome

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