Beckwith-Wiedemann Syndrome

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Beckwith-Wiedemann Syndrome (BWS) is an overgrowth condition characterized by increased growth after birth (macrosomia), an oversized tongue (macroglossia), enlargement of internal organs (organomegaly) and abdominal wall defects (omphalocele or umbilical hernia). Growth tends to slow by age eight and most adults with the condition are not unusually tall. Although causes of BWS are complex, it is generally understood that it is caused by abnormalities in expression of genes within a region of chromosome 11. Children with BWS may have a predisposition to develop certain childhood cancers, but the malignancy of tumors is greatest before age eight. Treatment for this condition typically involves the efforts a team of specialists including geneticists, pediatricians, plastic surgeons, kidney specialists, speech pathologists and child oncologists.

Organizations exist to provide support and resources to individuals and families facing rare disease diagnoses.

Information provided in part by our partner NORD.

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