Beckwith-Wiedemann syndrome


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Related to Beckwith-Wiedemann syndrome: Sotos syndrome

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

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 ?
Hussain, "The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation," Journal of Pediatric Endocrinology & Metabolism, 2014.
Children born with Beckwith-Wiedemann syndrome - named for the two doctors who discovered it - grow very large with big adrenal glands, elongated bones and oversized internal organs.
Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome. Hum Mol Genet 1994;3:1297-301.
Macroglossia in speech in Beckwith-Wiedemann syndrome: a sample survey study.
Beckwith-Wiedemann syndrome is a rare genetic disease that includes protrusion of part of the gut through the navel, enlarged organs such as the spleen and liver, increased height and the onset of diabetes within the first 30 days after birth.
Like PMD, these X-cell cysts have been described in association with Beckwith-Wiedemann syndrome. Histologically, placental cysts are cystic spaces containing proteinaceous eosinophilic material.
In addition to an association with low birth weight, there are several linked genetic diseases including overgrowth syndromes such as Beckwith-Wiedemann syndrome, chromosomally linked conditions (trisomies 2, 8 and 20) and X-linked Simpson-Golabi-Behmel syndrome, type 1 glycogen storage diseases, Li-Fraumeni syndrome, familial adenomatous polyposis (FAP) (3-6) and type 1 neurofibromatosis.
Six had Beckwith-Wiedemann syndrome, when only one would normally be expected in such a sample size.
Beckwith-Wiedemann syndrome. Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous disorder characterized by macrosomia, macroglossia, hemihypertrophy, transverse creases of the ear lobes, hypoglycemia, and predisposition to childhood tumors.
Birth defects associated with ART: 4.9-7.2 fold increase in malignant tumour of the retina; 5% incidence of Beckwith-Wiedemann Syndrome (large tongue, predisposition to cancer); in Brazil, the incidence of cancer increased 117 times; cerebral palsy increased 1.4-1.7 times; four-fold increase in developmental delay; premature birth increased 5.6 times; low birth rate increased 9.8 times and heart deformity increased 4 times.
In addition, the study found evidence "suggestive [of] but not sufficient" to indicate that assisted reproductive technologies (ART) may increase the risk of two rare genetic disorders, Beckwith-Wiedemann syndrome and a form of Angelman's syndrome.