Is Beckwith-Wiedemann syndrome serious?

Is Beckwith-Wiedemann syndrome serious?

Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.

What is Beckwith-Wiedemann syndrome caused by?

Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth and cancer predisposition disorder. BWS is caused by changes on chromosome 11p15. 5 and is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from person to person.

Can you outgrow Beckwith-Wiedemann syndrome?

Outlook. Most children with Beckwith-Wiedemann syndrome and isolated hemihypertrophy grow up to be healthy adults. The physical features of Beckwith-Wiedemann syndrome often become less noticeable as children grow. They are often larger than their peers during childhood, but their growth slows as they get older.

How is Beckwith-Wiedemann syndrome treated?

Beckwith-Wiedemann syndrome has no cure, but some treatments can help ease its symptoms. The most common Beckwith-Wiedemann syndrome treatments include: Medicine: Some infants require medicine for low blood sugar that persists past their first month.

Is the inheritance pattern of Beckwith–Wiedemann syndrome heterogeneous?

Inheritance pattern of Beckwith–Wiedemann syndrome is heterogeneous in 291 families with an affected proband. Am J Med Genet A. (2005) 137A:16–21. doi: 10.1002/ajmg.a.30827

How is Beckwith-Wiedemann syndrome (BWS) diagnosed?

Specific prenatal testing is possible by chromosome analysis for families with an inherited chromosome abnormality or by molecular genetic testing for families in which the molecular mechanism of BWS has been defined. No consensus clinical diagnostic criteria for Beckwith-Wiedemann syndrome (BWS) exist.

Is the KCNQ1OT1 gene hypomethylated in Beckwith-Wiedemann syndrome?

The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome. Hum Genet. (2002) 111:105–7. doi: 10.1007/s00439-002-0751-1 21. Mancini-DiNardo D, Steele SJS, Ingram RS, Tilghman SM. A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencer.

What is Beckwith-Wiedemann and Silver-Russell syndrome?

Jacob KJ, Robinson WP, Lefebvre L. Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth. Clin Genet. (2013) 84:326–34. doi: 10.1111/cge.12143