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Pronunciation: hol'o-pros-en-sef'a-le

Definition: Impaired midline cleavage of the embryonic forebrain resulting in a wide spectrum of facial features from cyclopia with proboscis above the single eye at the most severe form to ocular hypertelorism and single central upper incisor at the mildest form. This spectrum of disorders is associated with chromosomal aberrations involving chromosomes 2, 3, 7, 13, 18 and 21.

[holo- + G. proso, forward, + enkephalos, brain]

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