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Genetic and Rare Diseases Information Center (GARD)

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Beckwith-Wiedemann syndrome

Other Names for this Disease
  • EMG Syndrome
  • Exomphalos macroglossia gigantism syndrome
  • Wiedemann-Beckwith Syndrome (WBS)
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Your Question

Are there any sources for the physical milestones of children with Beckwith-Wiedemann syndrome? especially the age at which a child with Beckwith-Wiedemann syndrome typically walk?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome is a growth disorder that causes large body size, large organs, and other symptoms. The condition is present from birth. Newborns may be born with omphalocele and/or develop low blood sugar (hypoglycemia). Beckwith-Wiedemann syndrome is also associated with an increased rate of tumor (e.g., Wilm's tumor, adrenal carcinoma) development. Complications in infancy can become life threatening, however children with this syndrome tend to do well and have a normal to near normal learning ability. In most cases the cause of the condition is unknown. Some cases are associated with a anomaly involving chromosome 11.[1]
Last updated: 8/8/2012

Do children with Beckwith-Wiedemann syndrome tend to have developmental delays?

No. Development is usually normal in children with Beckwith-Wiedemann syndrome. Children who have Beckwith-Wiedemann syndrome as a result of a chromosome abnormality, children who have a history of hypoxia (shortage of oxygen to the body) or significant, untreated hypoglycemia (low blood sugar) may experience delays in development however.[2]
Last updated: 12/11/2009

I am working with a child with Beckwith-Wiedemann syndrome who has developmental delays. Who can I speak with to learn more about appropriate goals for physical milestones?

The presence and severity of developmental delays in children with Beckwith-Wiedemann syndrome vary. You may find it helpful to speak with the child's parent or guardian to see if a genetic professional is involved his/her medical care. Genetic professionals often have experience with rare conditions and and can work as a part of a child's medical team to help determine a diagnosis and management strategy. Speaking with the medical geneticist or genetic counselor involved in the child's care may be one way to learn more about appropriate goals for your patient. Click here to learn more about genetic consultations.
Last updated: 12/11/2009