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Beckwith-Wiedemann syndrome

Pronunciation: bek'with ve'de-mahn

Definition: an overgrowth syndrome characterized by exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia; there is an association with hemihypertrophy Wilms tumors and adrenocortical cancer. Autosomal dominant inheritance, with most cases sporadic; influenced by genomic imprinting and uniparental disomy; caused by change in the P57 (KIP2) gene locus on chromosome 11p.

Synonym(s): EMG syndrome, exomphalos, macroglossia, and gigantism syndrome

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