Beckwith-Wiedemann 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.

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

Beckwith-Wiedemann syndrome

CDKN1C

A gene on chromosome 11p15.5 that encodes a strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation.

Molecular pathology
CDKN1C mutation is implicated in sporadic cancers and Beckwith-Wiedemann syndrome, suggesting a role in tumour suppression.

Beckwith-Wiedemann syndrome

Pediatrics 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.

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.

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.

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.
References in periodicals archive ?
Patients with Beckwith-Wiedemann syndrome and familial adenomatous polyposis have an increased risk for congenital pancreatoblastomas and should be screened regularly.
A cystic variant can be found in patients with Beckwith-Wiedemann syndrome.
4) The HB-related Beckwith-Wiedemann syndrome is also associated with the dysregulation and LOH of imprinted genes at chromosome 11p15.
We were a little surprised, because the mutation was located on a famous gene recognized for causing Beckwith-Wiedemann syndrome.
horseshoe kidney, hypospadias, undescended testes), congenital aniridia, WAGR syndrome (aniridia, mental retardation, genito-urinary abnormalities), congenital hemihypertrophy, Beckwith-Wiedemann syndrome, and Denys-Drash syndrome (renal disease, pseudo-hermaphroditism).
The importance of these genes for human development and growth has been demonstrated in various syndromes, such as the Angelman, Prader-Willi, Beckwith-Wiedemann, and Silver-Russell syndromes (2).
Tiny Grace died as a result of the effects of Beckwith-Wiedemann syndrome which affects just one in 15,000 children in the UK.
Three rare "imprinting" birth defects (disorders that appear to develop more in one sex than in the other) have been reported in a handful of ART pregnancies: Beckwith-Wiedemann syndrome, Angelman's syndrome, and retinoblastoma.
There were five cases of major birth defects: one atrial septal defect, one ventricular septal defect, one gastroschisis, one isolated omphalocele, and one Beckwith-Wiedemann syndrome with omphalocele.
But the tiny risk of inheriting the rare disorder Beckwith-Wiedemann syndrome (BWS) is only 1 in 4000.
But 1,000 is too few to reveal increases in anomalies such as Beckwith-Wiedemann syndrome, which normally occurs in only one in 15,000 births.