Living with Beckwith-Wiedemann syndrome
A genetic overgrowth condition that affects many parts of the body, often starting before or at birth.
Understanding Beckwith-Wiedemann syndrome
Babies are often larger than usual, and some are taller in childhood. Growth slows by about age 8, and adults are not unusually tall. Features can include a large tongue, belly wall openings such as an omphalocele, large organs, low blood sugar in infancy, and one side of the body growing larger. Children have a higher chance of some tumors, which develop in about 10 percent of people and usually appear in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large tongue (macroglossia)
- One side of the body larger (hemihypertrophy)
- Larger than typical size at birth
- Extra amniotic fluid during pregnancy
- Enlarged kidneys
- Creases or pits in or near the ears
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, ear, nose, and throat specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Alex's Lemonade Stand Foundation, Hypertrophic Cardiomyopathy Association and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Cancer specialists (oncologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Alex's Lemonade Stand Foundation, Hypertrophic Cardiomyopathy Association, Children's Cardiomyopathy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Alex's Lemonade Stand Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. GARD describes it as autosomal dominant, so one changed copy of the gene can be enough.
Also known as: beckwith's syndrome; bws; emg syndrome; exomphalos macroglossia gigantism syndrome; exomphalos-macroglossia-gigantism syndrome; wiedemann-beckwith syndrome
Patient organizations
- Alex's Lemonade Stand FoundationBeckwith-Wiedemann syndrome · United States
- Congenital Hyperinsulinism InternationalBeckwith-Wiedemann syndrome · United States
- Hypertrophic Cardiomyopathy AssociationBeckwith-Wiedemann syndrome · United States
- Beckwith-Wiedemann Children's Foundation InternationalBeckwith-Wiedemann syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Beckwith-Wiedemann syndrome.
Explore research for Beckwith-Wiedemann syndrome
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