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Coffin-Siris syndrome

Pronunciation: kof'in sir'is

Definition: characterized by mental retardation, bulbous nose, flat nasal bridge, moderate hirsutism, and digital anomalies with absence or hypoplasia of the nail and terminal phalanx of the fifth finger and/or the fifth toe; probably autosomal dominant inheritance.

Synonym(s): fifth digit syndrome

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