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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.
a hereditary disorder transmitted as an autosomal-recessive trait, characterized by umbilical hernia (exomphalos), macroglossia, and gigantism, often accompanied by visceromegaly, dysplasia of the renal medulla, and enlargement of the cells of the adrenal cortex. Also called Beckwith-Wiedemann syndrome, exophthalmos-macroglossia-gigantism syndrome.
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