Other Names for this Disease
- EMG Syndrome
- Exomphalos - macroglossia - gigantism
- Exomphalos macroglossia gigantism syndrome
- Wiedemann-Beckwith syndrome
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Your QuestionAre 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?
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Questions on this page
Beckwith-Wiedemann syndrome (BWS) is a growth disorder that can affect several parts of the body. Affected infants are larger than normal and are taller than their peers during childhood. Growth slows down in several years, and affected adults are not unusually tall. Some children have asymmetric growth which usually becomes less apparent over time. Other signs and symptoms may include an omphalocele or other abdominal wall defect at birth; low blood sugar (hypoglycemia) in infancy; an abnormally large tongue (macroglossia); abnormally large abdominal organs; creases or pits in the skin near the ears; and kidney abnormalities. Affected children have an increased risk to develop tumors, particularly Wilms tumor and hepatoblastoma. BWS may be caused by several types of genetic changes, but in about 85% of cases only one person in a family is diagnosed with the disorder.
Last updated: 8/24/2015
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.
Last updated: 12/11/2009
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
- Beckwith-Wiedemann syndrome. Genetics Home Reference. June, 2015; http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome.
- Shuman, Smith, Weksberg. Beckwith-Wiedemann Syndrome. GeneReviews. 2005; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bws. Accessed 12/11/2009.