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

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 ?
12-14) That locus is also affected in children with Beckwith-Wiedemann syndrome, a syndrome that has been associated with congenital pancreatoblastoma and other congenital anomalies.
4) The HB-related Beckwith-Wiedemann syndrome is also associated with the dysregulation and LOH of imprinted genes at chromosome 11p15.
A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.
Beckwith-Wiedemann syndrome occurs in about 1 in 15,000 births in the general population, and the specific form of Angelman's syndrome that is of concern--an imprinting defect--occurs even more rarely, in about 1 in 300,000 births.
The common causes of Macroglossia in children Down Syndrome, Beckwith-Wiedemann syndrome, Amyloidosis, Sandhoff's disease, Cretinism, Hemangioma, Congenital Hypothyroidism, Lymphangioma, Myxedema, Pompe disease.
The initial evaluation of all patients with macroglossia may involve abdominal ultrasound and molecular studies for Beckwith-Wiedemann syndrome.
Trisomy of chromosome 20 and duplication of the long arm of chromosome 20 have been also observed in rhabdomyosarcoma, suggesting a link between these 2 embryonal tumors, both of which are also associated with losses at the Beckwith-Wiedemann syndrome locus.
INTRODUCTION: Beckwith-Wiedemann Syndrome (BWS)[9] is an overgrowth, multigenic disorder caused by dysregulation of the expression of imprinted genes in the 11p15 chromosomal region
The above described clinical features and investigations are suggestive of Beckwith-Wiedemann syndrome.
It may be associated with a completely normal fetus, a fetus with growth restriction, or a fetus with features of Beckwith-Wiedemann syndrome.
7%) presented with lump/mass abdomen, 01 case with Beckwith-Wiedemann syndrome and 01 case with anemia (Table no.
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.