Beckwith Wiedemann Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Beckwith Wiedemann Syndrome?
A geneticist, a doctor who treats inherited conditions, usually leads the care. A pediatrician, a children's doctor, watches the baby's day to day health. Other specialists may help too. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Beckwith Wiedemann syndrome?
Beckwith Wiedemann syndrome is a rare genetic condition that affects many parts of the body. Babies born with it are larger than normal. Some are taller than other children for a while, but growth slows by about age 8. Adults with it are not unusually tall.
It is present at birth. It affects about 1 in 10,500 to 13,700 newborns, and may be more common since mild cases go undiagnosed. Most people with it do not have serious medical problems, and life span is usually normal.
Symptoms
Signs vary from child to child. Common ones include:
- An abnormally large tongue (macroglossia), which can get in the way of breathing, swallowing, and speaking.
- Large body size and enlarged abdominal organs.
- One side of the body or face growing larger than the other, called hemihyperplasia. This usually becomes less obvious over time.
- An omphalocele, an opening in the belly wall that lets organs push through the belly button, or a hernia near it.
- Creases or pits in the skin near the ears.
- A red birthmark on the forehead or eyelids.
- Low blood sugar (hypoglycemia) in infancy.
- Kidney abnormalities.
Causes and who gets it
The condition usually comes from genes on chromosome 11 being turned on or off in the wrong way. Children inherit one copy of this chromosome from each parent. At least half of cases come from changes in methylation, a chemical process that marks parts of DNA. About 20 percent come from a change called paternal uniparental disomy, in which a child has two active copies of genes from the father. Less often, changes in the CDKN1C gene, which helps control growth before birth, cause it. A few people have a rearrangement, extra copy, or loss of DNA on chromosome 11.
How doctors diagnose it
The signs show at or soon after birth, so a physical exam is often enough. Tests can include blood tests for low blood sugar, chromosomal studies of chromosome 11, and an ultrasound of the belly. Genetic counseling may also be of value for families.
Treatment
There is no cure, but care manages each problem. Babies with low blood sugar may get fluids through a vein, and some need medicine if it continues. Holes in the belly wall may need repair. If a large tongue makes breathing or eating hard, surgery may help. Doctors also watch for a curved spine (scoliosis).
Children are also watched closely for tumors. About 10 percent get one, most often Wilms tumor, a kind of kidney cancer, or hepatoblastoma, a kind of liver cancer. These tumors almost always appear in childhood. Screening uses blood tests and ultrasound scans of the belly.
When to see a doctor
If a child with this syndrome develops worrisome symptoms, contact a pediatrician right away. Call 911 or go to the emergency room if a baby or child has trouble breathing, bluish or grey skin, a seizure, or is very sleepy or hard to wake. Low blood sugar and breathing problems from a large tongue can happen with this syndrome.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can follow the child's growth over time and coordinate the specialists involved in care. Longer visits can help families keep track of screening plans.
Common questions
Can Beckwith Wiedemann syndrome be cured?
No. There is no cure. Treatment handles each problem, such as low blood sugar, trouble breathing or eating from a large tongue, and tumor screening. Most children do well with proper monitoring.
Is it inherited from a parent?
Usually not. In about 85 percent of cases, only one person in a family has it. Some cases do run in families. One altered copy of a gene is enough in those cases, and the chance of it happening again depends on the genetic cause.
What cancers are linked to it?
Children have a higher chance of Wilms tumor, a kind of kidney cancer, and hepatoblastoma, a kind of liver cancer. Tumors happen in about 10 percent of cases and almost always show up in childhood.
Will my child grow unusually tall?
Not as an adult. Babies are often larger than normal, and children may be taller than peers for a while. Growth slows by about age 8, and adults are not unusually tall.
Sources
- MedlinePlus - Beckwith-Wiedemann syndrome: MedlinePlus Genetics
- MedlinePlus - Beckwith-Wiedemann syndrome: MedlinePlus Medical Encyclopedia
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
