Genetic syndromes and other conditions

Beckwith-Wiedemann syndrome (BWS)

A genetic condition with overgrowth in infancy. A large tongue, an opening in the belly wall and an increased risk of some tumors may be seen.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Genetic syndromes and other conditions” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The setting of growth genes on chromosome 11 is disturbed. Some of these genes work only in the copy from the mother, and some only in the copy from the father. When this balance is disturbed, the body or part of it grows too much. The problem is often present in only some of the body's cells.

Which symptoms can occur?

Symptoms vary greatly. Most people do not have serious problems. The following may be seen:

A large baby at birth
More growth on one side of the body
A large tongue; it can affect breathing, swallowing and speech
An opening in the belly wall at the navel, or an umbilical hernia
Low blood sugar in infancy
Creases or pits near the ear
Large abdominal organs and kidney differences
Some tumors in childhood, for example a kidney or liver tumor (about 10 percent)

How is it diagnosed?

The diagnosis is based on examination findings and a scoring system. A genetic test looks at the relevant region on chromosome 11. Because the problem is not in every cell, a blood test can be normal; other tissues may also be tested. Sometimes it is suspected on an ultrasound before birth.

Treatment and care

Treatment is planned according to each child's symptoms. In the newborn, blood sugar is monitored closely. An opening in the belly wall is usually closed with surgery soon after birth. For a large tongue, feeding, sleep and speech support are given; sometimes surgery to reduce the tongue is done. Regular abdominal ultrasound and blood tests are done to find tumors early. A difference in leg length is followed by an orthopedic specialist. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

In about 85 percent of families, only one person in the family is affected. Even so, the risk for brothers and sisters depends on the genetic cause of the disease. In some families more than one person is affected and dominant inheritance is seen. In these families it matters which parent the gene comes from. Genetic counselling clarifies the risk.

Source: MedlinePlus Genetics: Beckwith-Wiedemann syndrome · NORD: Beckwith-Wiedemann Syndrome

Key facts

How is it inherited?: Autosomal dominant · Unknown
When does it usually start?: Before birth, Newborn period
Reliable sources: MedlinePlus (for families) · Orphanet

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Guides related to this disease

Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.

Support and help

In an emergency in Türkiye, call 112.
For psychological and social support, the ALO 183 Social Support Line (24/7, free from within Türkiye): alo183.aile.gov.tr
For carers: Looking after yourself as a caregiver
Preparing for a doctor visit · Collect your questions and symptom notes on one page, then print it and take it with you.

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Beckwith-Wiedemann

TürkiyeDiagnosis and screeningJanuary 2, 2025

18 patients with Beckwith-Wiedemann in Ankara: international scoring found helpful for diagnosis

Children with Beckwith-Wiedemann syndrome were studied at Ankara Bilkent City Hospital.

Peer-reviewed publicationBeckwith-Wiedemann

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

Could this trial be suitable for us?
If we take part, how would current treatment and check-ups be affected?
Where does the trial take place, and how are travel and accommodation handled?
What happens if we want to leave the trial?

ClinicalTrials.gov lists 1 active interventional study for this disease. 1 is recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

Maternal Genes and Epimutations: Beckwith-Wiedemann Syndrome & Reproductive Risks
Non-drug study (device, procedure, care, etc.)RecruitingNCT06346418

See all studies on ClinicalTrials.gov · Joining clinical trials

Genetic syndromes and other conditions: other news

TürkiyeResearch and clinical trialsAugust 29, 2026

Brain MRI findings in more than half of children with Noonan syndrome in Ankara

Ankara University reviewed the brain MRIs of children with Noonan syndrome.

Peer-reviewed publicationNoonan

TürkiyeResearch and clinical trialsAugust 19, 2026

Sotos syndrome study from 14 centers in Türkiye: 48 children studied

In Türkiye, 14 centers jointly studied children with Sotos syndrome and the similar Malan syndrome.

Peer-reviewed publicationSotos

FranceResearch and clinical trialsAugust 11, 2026

In Noonan syndrome, the cholesterol drug simvastatin did not benefit growth in a phase 3 trial

In France, simvastatin was compared with placebo in children with Noonan syndrome.

Peer-reviewed publicationNoonan

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:116

No separate ICD-11 code; WHO classifies this disease under: LD2C

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.