EMG syndrome


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Beck·with-Wie·de·mann syn·drome

(bek'with vē'dĕ-mahn), [MIM*130650]
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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Beckwith,

John Bruce, U.S. pediatric pathologist, 1933–.
Beckwith syndrome - Synonym(s): Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome - exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia; autosomal recessive inheritance. Synonym(s): Beckwith syndrome; EMG syndrome
Medical Eponyms © Farlex 2012