What Is Beckwith-Wiedemann Syndrome?
Genetic Disorders Data Verified

Beckwith-Wiedemann Syndrome - An Overview

Published on Jan 25, 2023 and last reviewed on Jun 13, 2023   -  5 min read


Beckwith-Wiedemann syndrome is a congenital condition that affects the growth of a child. Read this article for more details.


Beckwith-Weidemann syndrome (BWS) is a genetic or congenital condition present from birth and causes physical differences in the child's body compared to other children at birth. It is a rare disorder, also referred to as overgrowth syndrome, and may involve several body parts. The children with this syndrome are much larger than other children of the same age.

What Is Beckwith-Wiedemann Syndrome?

Beckwith-Wiedemann syndrome (BWS) was termed by Dr. Bruce Beckwith and Dr. Hans Rudolph Weidemann in the 1960s. They found the children with symptoms like body overgrowth, enlarged tongues, external intestines, and low blood sugar. They termed this condition as Beckwith-Wiedemann syndrome in children showing the respective signs.

Nowadays, approximately 1 in every 13,700 newborns worldwide is affected by this condition. Although, in some cases, children have only minor signs or symptoms which may never get diagnosed.

What Are the Common Characteristics of Beckwith-Wiedemann Syndrome?

Children with Beckwith-Wiedemann syndrome have characteristic physical features, which can also be noticed before birth in prenatal ultrasounds. And some of the basic features of this disease can be detected by the healthcare provider during birth or by the age of two years. And these characteristics involve:

  • Macroglossia (Large Tongue): If a child has macroglossia, their tongue could be too large for their mouth.

  • Child Weight: The weight of the child would be more than average compared to other children.

  • Pink or Red Birthmarks on Their Faces: These birthmarks are sometimes called angel kisses or stork bites (this rarely indicates BWS).

  • Skin Indentations: Tiny indentations or creases in or outside of the ears.

What Causes Beckwith-Wiedemann Syndrome?

Beckwith-Wiedemann syndrome is a congenital condition that occurs due to the changes in the chromosome that regulates growth. About 10 to 15 percent of children with a family history of BWS can develop this syndrome, meaning one of the parents has passed this syndrome genetically.

BWS is associated with defects in the gene 11p on one of the arms of chromosome 11.1; that is why this syndrome is also called the 11p overgrowth spectrum.

The etiology of this defect is unclear, although some of the reasons include the following:

  • Abnormalities in gene expression.

  • Changes in the methylation cycle (series of chemical changes occurring in the body).

  • Abnormality in the active genes on chromosome 11.

  • Gene mutations.

What Are the Symptoms of Beckwith-Wiedemann Syndrome?

Beckwith-Wiedemann syndrome affects both males and females equally. Children with Beckwith-Wiedemann syndrome are usually larger than other children of the same age, and the growth starts to decrease around the age of eight years. The adults with this syndrome are usually of average height (not tall). The various symptoms involved with this syndrome are as follows:

  • Abnormally increased birth height and weight.

  • Overgrowth of one part of the body or one side of the body (hemihyperplasia).

  • An enlarged tongue (macroglossia).

  • The low blood sugar level in the body (hypoglycemia).

  • Too much insulin in the body (hyperinsulinism).

  • Defects in the abdominal wall like a hernia or omphalocele (a condition where the intestines and organs are located outside the abdomen).

  • Abnormalities in the organs like the liver and kidney (kidney changes include an enlarged kidney, cysts, and kidney stones).

  • Unusual grooves or pits in the earlobes or behind the ears.

  • High risk of cancer, especially in childhood.

People who are suffering from Beckwith-Wiedemann syndrome can usually lead a normal life. However, there are some life-threatening symptoms related to it, first is the development of malignant tumors in children, including a rare kidney cancer known as Wilms tumor. Another one is that infants may develop prolonged low blood sugar or hypoglycemia due to too much insulin.

What Is the Complication of Beckwith-Wiedemann Syndrome?

Children with Beckwith-Wiedemann syndrome and hemihypertrophy (a condition in which one side of the body is larger than the other) are at the highest risk of developing cancer in childhood. Although the risk of developing cancer is around 5 to 10 percent, it may vary depending on the genetic cause of this syndrome.

  • Wilms tumor, a kidney cancer, is one of the most common cancers occurring in children with Beckwith-Wiedemann syndrome or hemihypertrophy by the age of seven.

  • Hepatoblastoma cancer of the liver is the second most common cancer occurring in patients with Beckwith-Wiedemann syndrome, usually around the age of two years.

  • Rarely, adrenocortical carcinoma (a rare disease in which cancer cells form in the outer layer of the adrenal gland), neuroblastoma, or rhabdomyosarcoma are also seen.

How Is Beckwith-Wiedemann Syndrome Diagnosed?

Beckwith-Wiedemann syndrome can be diagnosed by the physician or healthcare provider by physically examining the patient. The characteristic features of Beckwith-Wiedemann syndrome can be easily identified, such as abnormalities in the abdominal wall, abnormal increase in height or weight, and tongue size. The physician may examine the patient's family history and symptoms to confirm the diagnosis. And genetic testing can be prescribed by the physician to understand the cause of the syndrome and to check whether it has a familial characteristic. Other children of the family may also get this syndrome.

Prenatal ultrasounds may show features like enlarged organs, showing enlarged organs, large fetal size, and enlarged placenta, which can help prepare the parents to cope with this problem.

What Is the Treatment Plan For Beckwith-Wiedemann Syndrome?

The treatment plan for Beckwith-Wiedemann syndrome involves treating the related symptoms and complications in the body. The various interventions that can be done to help the patient include:

  • Monitoring the blood sugar levels in infants.

  • Intravenous treatments or other medications in case of low blood sugar levels.

  • Surgical repair of the abdominal wall keeps the internal organs safe and avoids further complications.

  • Surgery of the tongue to reduce the tongue size if it interferes with feeding or breathing in the child.

  • Routine screening for the tumor via blood tests and ultrasounds of the abdomen.

  • Management of hemihypertrophy with orthopedic surgery.

  • Other interventions like speech therapy and physical or occupational therapy.

  • And other specialist doctors may also be required in case more organs get involved, such as kidneys, liver, or pancreas.

Regular screening is an integral part of Beckwith-Wiedemann syndrome treatment and its complications. Additional help may also be required in case of tumor development.

Beckwith-Wiedemann syndrome cannot be prevented, and the treatment can only be done for all different complications occurring due to this disorder.


Beckwith-Wiedemann syndrome cannot be cured, but there are various medical facilities available that can help in resolving the majority of its complications or symptoms. Children with Beckwith-Wiedemann syndrome can grow to lead a happy and healthy life by following all the necessary precautions and treatment required. Progressively corrective surgeries may also be beneficial. The affected individuals can lead a normal healthy life provided they receive better medical and psychological support.

Last reviewed at:
13 Jun 2023  -  5 min read




Comprehensive Medical Second Opinion.Submit your Case

Related Questions & Answers

Medullary Sponge Kidney - Pathogenesis, Etiology, Symptoms, and Treatment

Article Overview: The medullary sponge kidney is a benign congenital disorder characterized by dilatation of the collecting tubules of the kidney. Read to know more. Read Article

Manzoor Ahmad Parry
Manzoor Ahmad Parry

Introduction The medullary sponge kidney (MSK) was first described in 1939 by Landerduzzi. It is a birth defect in which the dilatation of the kidney tubules occurs as a result of the formation of cysts in one or both kidneys. However, in 70% of cases, it is bilateral. These cysts, in turn, reduce t...  Read Article

Mesoblastic Nephroma - Symptoms, Types, Differential Diagnoses, and Treatment

Article Overview: Mesoblastic nephroma is a rare yet common type of kidney tumor that affects newborns. Read the below article to know more about it. Read Article

Manzoor Ahmad Parry
Manzoor Ahmad Parry

Introduction: Mesoblastic nephroma is a type of kidney tumor that is either diagnosed before the birth of a child or during its first few months of life. This tumor is one of the common types of kidney tumors that affect newborns. Most of these tumors are not aggressive and show a better prognosis a...  Read Article

Pediatric Pathology

Article Overview: Most pediatric conditions are genetic disorders. Rest are rare abnormalities. Read the article below to learn more. Read Article

Introduction: Pediatric diseases are conditions seen among the population from birth to 16 years of age. The very first year of infancy is more vulnerable to diseases. Therefore, crossing over the first year is a sigh of major relief. However, various diseases are associated with different age group...  Read Article

Popular Articles Most Popular Articles

Do you have a question on Beckwith Wiedemann Syndrome or ?

Ask a Doctor Online

* guaranteed answer within 4 hours.

Disclaimer: No content published on this website is intended to be a substitute for professional medical diagnosis, advice or treatment by a trained physician. Seek advice from your physician or other qualified healthcare providers with questions you may have regarding your symptoms and medical condition for a complete medical diagnosis. Do not delay or disregard seeking professional medical advice because of something you have read on this website. Read our Editorial Process to know how we create content for health articles and queries.