What's Beckwith-Wiedemann syndrome?
Beckwith-Wiedemann syndrome is a congenital overgrowth disorder that arises from genetic and epigenetic changes at the imprinted 11p15.5 region. It typically involves overgrowth, a large tongue, abdominal wall defects, low blood sugar in the newborn period, and an increased risk of certain childhood tumors.
| Also indexed as | OMIM:130650, MONDO:0007534 |
|---|---|
| Features mapped | 15 |
| Treatments mapped | 6 |
| Published sources | 10 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Hemihypertrophy
Beckwith-Wiedemann syndrome is one of the conditions characterised by lateralized overgrowth, where one part or side of the body grows larger than the other.
Placental mesenchymal dysplasia
Placental mesenchymal dysplasia (PMD) is a rare condition affecting the placenta that can look very similar to certain pregnancy-related growth disorders on ultrasound scans.
Overgrowth
Beckwith-Wiedemann syndrome is a congenital overgrowth disorder, meaning the body or parts of it grow larger than usual, driven by genetic and epigenetic changes at the 11p15.5 region of chromosome 11.
Nevus flammeus
A facial nevus flammeus, commonly called a port-wine stain, is a flat reddish birthmark that can appear in Beckwith-Wiedemann syndrome, often on the forehead or eyelids. It is one of the suggestive features of the condition.
Hepatoblastoma
There is an increased risk of hepatoblastoma, a childhood liver tumor. Screening with blood tests and ultrasound aims to catch it early.
Nephroblastoma
There is an increased risk of Wilms tumor (nephroblastoma), a childhood kidney tumor. This is why regular tumor screening is recommended in early childhood.
Omphalocele
An abdominal wall defect such as an omphalocele, where abdominal contents protrude through the navel, can be present at birth and is repaired surgically.
Neonatal hypoglycemia
Low blood sugar in the newborn period (often from excess insulin) is common and can be persistent, so monitoring and treatment in early life matter.
Enlarged kidney
Enlarged kidneys (nephromegaly) can occur in Beckwith-Wiedemann syndrome as part of its overgrowth pattern. It is one of the suggestive features that can prompt evaluation for the condition.
Kidney stone
Some people with medullary sponge kidney (MSK) have no symptoms at all, while others may experience blood in the urine, pain from kidney stones, repeated urinary tract infections, or problems with the body’s chemical balance.
Hepatomegaly
An enlarged liver (hepatomegaly) can occur in Beckwith-Wiedemann syndrome, where it is described as a suggestive feature seen in a minority of children.
Macroglossia
Macroglossia, an enlarged tongue, is a frequent feature of Beckwith-Wiedemann syndrome. It can affect breathing, feeding, speech, and the developing jaw and teeth.
Macrosomia (overgrowth at birth)
Babies with Beckwith-Wiedemann are often unusually large at birth and grow faster than expected in early childhood (macrosomia). This generalized overgrowth is one of the core features that prompts testing for the syndrome.
Organomegaly (visceromegaly)
Internal organs such as the liver, kidneys, and spleen can be enlarged in Beckwith-Wiedemann (organomegaly). This enlargement reflects the same overgrowth process that affects the rest of the body.
Hyperinsulinism
Many newborns with Beckwith-Wiedemann make too much insulin (hyperinsulinism), which drives blood sugar dangerously low in the first days of life. Recognizing and treating this is a key part of early care.
How it is diagnosed
Beckwith-Wiedemann syndrome
Diagnosed using: 11p15.5 methylation and uniparental disomy testing.
“…including methylation-specific testing and uniparental disomy…”
Beckwith-Wiedemann syndrome
Diagnosed using: tumor surveillance with abdominal ultrasound and serum AFP.
“Long-term care emphasizes structured tumor screening [abdominal ultrasound and serum alpha-fetoprotein (AFP)], growth and developmental monitoring, functional rehabilitation, and genetic counseling to address familial recurrence risks.”
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
tumor surveillance
Because of the raised tumor risk, long-term care centers on structured tumor screening, typically abdominal ultrasound and a blood test for alpha-fetoprotein, alongside growth and developmental monitoring. The aim is early detection, not cure; the right schedule for any child is set with their care team.
Used to help with: Beckwith-Wiedemann syndrome.
“Long-term care emphasizes structured tumor screening [abdominal ultrasound and serum alpha-fetoprotein (AFP)], growth and developmental monitoring, functional rehabilitation, and genetic counseling to address familial recurrence risks.”
tongue reduction surgery
Partial glossectomy (tongue reduction surgery) is a common procedure used in Beckwith-Wiedemann syndrome to reduce problems caused by an enlarged tongue, such as difficulties with breathing, feeding, and speech.
Used to help with: Beckwith-Wiedemann syndrome.
“Macroglossia is a frequent clinical feature of Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder. Macroglossia can lead to abnormal breathing, feeding, speech, and dentoskeletal development. Partial glossectomy is a common intervention aimed at reducing these abnormalities.”
diazoxide
Diazoxide is a medication used to manage the hyperinsulinism-driven low blood sugar of Beckwith-Wiedemann syndrome; in a cohort of children, some required a course of diazoxide therapy lasting up to several months.
Used to help with: Beckwith-Wiedemann syndrome.
“10 patients had no HH, 5 had mild transient HH that resolved spontaneously, and 4 required diazoxide therapy for up to 6…”
octreotide
Octreotide, a somatostatin analog, is used to help control the low blood sugar of hyperinsulinism in Beckwith-Wiedemann syndrome, typically when the low blood sugar does not respond to first-line medication.
Used to help with: Beckwith-Wiedemann syndrome.
“Octreotide, a somatostatin analog, often has a role in the management of these…”
omphalocele surgical repair
In Beckwith-Wiedemann syndrome, an abdominal wall defect such as omphalocele is repaired using standard surgical approaches in the newborn period.
Used to help with: Beckwith-Wiedemann syndrome.
“Meanwhile, omphalocele is addressed following standard surgical management approaches.”
continuous glucose monitoring
Continuous glucose monitoring is used in the newborn period in Beckwith-Wiedemann syndrome to track and manage the low blood sugar that can result from hyperinsulinism.
Used to help with: Beckwith-Wiedemann syndrome.
“…critical issues such as hypoglycemia due to hyperinsulinism and airway compromise from macroglossia require specialized interventions [e.g., continuous glucose monitoring (CGM) and tongue-reduction…”
What changes how it shows up
Carrying the genetic change is not the whole story. The factors below are described in the research mapped here as changing whether, or how strongly, the condition appears. They modulate how the genotype is expressed; they do not, on their own, cause or cure it.
11p15.5 imprinting alteration
Most cases of Beckwith-Wiedemann syndrome trace to a change at the imprinting control regions IC2 and IC1 on chromosome 11p15.5: loss or gain of methylation, paternal uniparental disomy of 11p15, or a change in the CDKN1C gene. Which change is present helps explain the features and tumor risk.
Described as modulating: Beckwith-Wiedemann syndrome.
“The disorder is primarily associated with loss or gain of methylation at imprinting control regions IC2 and IC1, paternal uniparental disomy of 11p15, or pathogenic variants in CDKN1C.”
telomeric vs centromeric imprinting domain
The molecular changes in Beckwith-Wiedemann syndrome fall in two imprinting domains on chromosome 11p15: a telomeric domain (with the H19 and IGF2 genes) and a centromeric domain (with the KCNQ1OT1 and CDKN1C genes). Changes in the telomeric domain are associated with overgrowth and cancer predisposition.
Described as modulating: Beckwith-Wiedemann syndrome.
“…disorders of imprinting in the telomeric domain are associated with overgrowth and cancer predisposition, whereas those in the centromeric domain involve malformations but not tumor…”
paternal uniparental disomy 11p15 hyperinsulinism severity
When Beckwith-Wiedemann syndrome is caused by paternal uniparental disomy of chromosome 11p15, the hyperinsulinism tends to be more persistent and severe than in other molecular subgroups, where the low blood sugar is more often transient.
Described as modulating: Beckwith-Wiedemann syndrome.
“We found that patients with pUPD11p-associated HI have a persistent and severe HI phenotype compared with transient hypoglycaemia of BWS/11p overgrowth patients caused by other aetiologies.”
How to read the evidence labels
Where this comes from
This guide is built from 10 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.