Beckwith-Wiedemann syndrome(redirected from exomphalos, macroglossia, and gigantism syndrome)
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Beckwith-Wiedemann syndrome[bek´with ve´dĕ-mahn]
an autosomal dominant syndrome with variable expressivity, usually seen as a growth-related disorder in infants with risk of the development of hypoglycemia and tumors; other characteristics include umbilical hernia, large protruding tongue, and gigantism, often with visceromegaly, adrenocortical cytomegaly, and dysplasia of the renal medulla. Information and peer support for families affected with this disorder can be obtained from the Beckwith-Wiedemann Support Network on the Internet at http://beckwith-wiedemann.org.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
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.
Farlex Partner Medical Dictionary © Farlex 2012
CDKN1CA gene on chromosome 11p15.5 that encodes a strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation.
CDKN1C mutation is implicated in sporadic cancers and Beckwith-Wiedemann syndrome, suggesting a role in tumour suppression.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Beckwith-Wiedemann syndromePediatrics An AD condition characterized by overgrowth with visceromegaly–± asymmetric, resulting in hemihypertrophy, macroglossia, macrosomia, omphalocele, seizures, hyperinsulinemic hypoglycemia, mental retardation, microcephaly, renal medullary disease, pancreatic and renal hyperplasia, and ↑ benign–adrenal adenoma, hamartoma of heart and malignant–nephroblastoma, adrenocortical carcinoma, and embryonal tumors–eg, Wilms' tumor, hepatoblastoma, rhabdomyosarcoma. See Wilms' tumor.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
Beck·with-Wie·de·mann syn·drome(bek'with vē'de-mahn sin'drōm)
Exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia; autosomal recessive inheritance.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
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
Wiedemann,Hans Rudolf, German pediatrician, 1915–.
Beckwith-Wiedemann syndrome - see under Beckwith
Maroteaux-Spranger-Wiedemann syndrome - see under Maroteaux
Wiedemann syndrome - deformities in neonates caused by thalidomide ingestion during pregnancy.
Medical Eponyms © Farlex 2012
Beck·with-Wie·de·mann syn·drome(bek'with vē'de-mahn sin'drōm) [MIM*130650]
An overgrowth syndrome characterized by exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia.
Medical Dictionary for the Dental Professions © Farlex 2012