What is

Beckwith-Wiedemann Spectrum

Overview

Beckwith-Wiedemann Spectrum (BWSp) is a rare genetic condition that affects growth and development in infants and children. It is part of a group of disorders known as epigenetic imprinting disorders, which involve changes in how certain genes are turned on or off.

Children with BWSp often grow more rapidly than their peers, especially in the womb and during early childhood. The condition can also involve specific physical features, an increased risk of certain tumors, and a wide range of medical needs that vary from child to child. Because symptoms and severity can vary so widely, it’s referred to as a spectrum.

Causes

BWSp is caused by mutations or epigenetic alterations on a specific region of chromosome 11 (11p15). This region controls growth, and disruptions can cause certain genes to become overactive or underactive.

These genetic changes can occur in several ways:

  • Epigenetic alterations (most common)

  • Uniparental disomy (both copies of chromosome 11 come from one parent)

  • Gene mutations

  • Chromosomal rearrangements or duplications

In most cases, these changes happen randomly and are not inherited.

However, in about 10–15% of cases, BWSp can be passed down from a parent.

BWSp affects approximately 1 in 10,000 to 15,000 births worldwide, though it may be underdiagnosed due to the wide variability in symptoms. With increased awareness and improved genetic testing, more cases are being identified early.

Signs and Symptoms

BWSp can present differently in each child, but common features include:

  • Macrosomia (above-average birth weight and length)

  • Macroglossia (enlarged tongue)

  • Abdominal wall defects (such as omphalocele or umbilical hernia)

  • Hemihyperplasia/Lateralized Overgrowth (asymmetry between the two sides of the body)

  • Ear creases or pits

  • Low blood sugar (hypoglycemia) in newborns

  • Kidney or liver abnormalities

  • Increased risk of childhood tumors, particularly Wilms tumor and hepatoblastoma

Roughly 50% of infants with BWSp experience low blood sugar shortly after birth

Diagnosis and Testing

BWSp is typically diagnosed based on clinical features and confirmed with genetic or epigenetic testing.

Steps in diagnosis may include:

  • A physical examination by a geneticist

  • Testing to assess DNA methylation patterns on chromosome 11p15

  • Testing for uniparental disomy or other chromosomal changes

  • Family history review

Because not all children show the same signs, a diagnostic scoring system is often used to guide genetic testing and clinical management.

Treatment & Management

There is no cure for BWSp, but many of its symptoms and complications can be managed successfully with proper care. A multidisciplinary team of specialists often works together to support the child’s health and development.

Management may include:

  • Monitoring for tumors with regular abdominal ultrasounds and blood tests (usually until age 7–8)

  • Surgery (to correct abdominal wall defects or reduce tongue size if it interferes with breathing or feeding)

  • Management of hypoglycemia in infancy

  • Orthopedic care for limb length differences

  • Speech therapy, feeding support, and early intervention services as needed

  • Regular growth monitoring and developmental assessments

Most children with BWSp go on to lead healthy lives with appropriate medical care and follow-up.

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