Beckwith-Wiedemann syndrome


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Related to Beckwith-Wiedemann syndrome: Sotos syndrome

Beckwith-Wiedemann syndrome

[¦bek‚with ′wēd·ə·män ‚sin‚drōm]
(medicine)
A congenital, generalized overgrowth syndrome attributed to a relative deficiency of maternally derived genes that is characterized by visceromegaly and predisposition to childhood tumors, especially Wilms' tumor.
References in periodicals archive ?
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.
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.
Baby Maddison was born nine weeks early with a rare genetic condition called Beckwith-Wiedemann syndrome.
However, babies with Beckwith-Wiedemann syndrome, in which some maternally derived genes are suppressed and paternal genes dominate, are born heavy with particularly large tongues.
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.
As well as being important for normal development, methylation changes are detected in many cancers and some developmental disorders such as 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.
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.