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 ?
We present a case of an adolescent female with Beckwith-Wiedemann syndrome who developed recurrent, bilateral, and metastatic pheochromocytoma despite low-risk histopathology.
Beckwith-Wiedemann syndrome had the largest association in this series, with 58 (37.
KIP2] (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome.
Twenty-one years to the right diagnosis--clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome.
Patients with Beckwith-Wiedemann syndrome and familial adenomatous polyposis have an increased risk for congenital pancreatoblastomas and should be screened regularly.
Like PMD, these X-cell cysts have been described in association with Beckwith-Wiedemann syndrome.
They then address the genetics of the GH axis, with discussion of the spectrum of isolated insulin-like factor-1 (IGF-1) deficiency, the molecular defects downstream of IGF-1, and the new detection methods of GH and growth factors, and the epigenetics and bioinformatics of GH, including imprinted anomalies in Russell-Silver and Beckwith-Wiedemann syndromes, new aspects of growth hormone and cell growth, the role of zinc in the secretory pathway of growth hormone, and isolated growth hormone deficiency type 2.
The 16-month-old suffers from the rare Beckwith-Wiedemann syndrome, an overgrowth disorder which puts him at risk of cancer and other illnesses.
The Huntingdon star has Beckwith-Wiedemann Syndrome which causes large body size and other symptoms.
It was reported as both a single anomaly and together with some syndromes, such as Type I Ehlers-Danlos Syndrome (#130000), Cat Eye Syndrome (#115470) and Beckwith-Wiedemann Syndrome (#130650).
London, May 28 ( ANI ): The mutation responsible for IMAGe syndrome - a rare disorder that stunts infants' growth - has been identified, and surprisingly it occurs on the same gene that causes Beckwith-Wiedemann syndrome, which makes cells grow too fast, leading to very large children.