Beckwith-Wiedemann Syndrome – Pictures, Symptoms, Causes, Treatment

What is Beckwith-Wiedemann Syndrome?

Beckwith-Wiedemann Syndrome is a rare condition usually (though not always) present at birth and is characterized by gigantism, overgrowth and a high predisposition to tumor formation and malignancies.

Beckwith-Wiedemann Syndrome Pics

A Newborn Child With Beckwith-Wiedemann Syndrome Exhibiting Exomphalos or Weakness of the Abdominal Muscles Overlying the Umbilical Cord

Hallmark Features of Beckwith-Wiedemann syndrome:

  • Giganstism
  • Exomphalos
  • Macroglossia
  • Defects in the abdominal wall
  • Presence of ear pits or creases
  • Hypoglycemina

Prevalence of Beckwith-Wiedemann syndrome

This condition is said to occur one in every 13,700 births. In the United States, approximately 300 children are born with tis condition.

Children that was conceived through in vitro fertilization is more likely at risk of developing Beckwith-wiedemann syndrome/

This condition was named after Dr. Hans-Rudolf Wiedemann who described the hallmark signs exomphalos-macrocglossia and gigantism, and Professor Beckwith who described the severe adrenal enlargement present in some patients.

Beckwith-Wiedemann Syndrome Symptoms

Signs and clinical features of Beckwith-Wiedemann syndrome include:

    1. Gigantism
    2. Exomphalos
    3. Macroglossia
    4. Defects in the abdominal wall
      • Umbilical hernia
      • Omphalocele
      • Diastasis recti
    5. Presence of ear pits or creases
    6. Hypoglycemia after birth

Most cases of Beckwith-Wiedemann syndrome have all the six hallmark signs present. for other cases, the features would include:

  • Nevus flammeus on the eyelids and forehead- a vascular anomaly characterized by deep dilations of the capillaries in the skin giving a red to purple discoloration. (Resembles a port wine).
  • A prominent occiput
  • Hypoplasia of the midface
  • Hemihypertrophy
  • Kidney enlargement
  • Heart abnormalities
  • Musculokeletal abnormalities
  • Hearing loss
  • Adrenal enlargement

Beckwith-wiedemann syndrome is also characterized by childhood tumor formations such as:

  • Wilm’s tumor or tumor of the kidneys and adrenal gland (particularly the adrenal cortex). This can be attributed to the overgrowth pattern seen in this syndrome.

Beckwith-wiedemann syndrome Causes

  • Gene mutations

Beckwith-wiedemann syndrome is primarily caused by aberrations in the genes. It can be inherited through an autosomal dominant pattern, but most of the cases are of sporadic emergence of the disease. In fact more than 85% of the cases of Beckwith-wiedemann syndrome are sporadic; which means the mutations were not inherited or were not traced in any of the family members. The specific mutation can be traced on chromosome 11’s short arm. This area is referred to as the 11p15 location.

Pathogenesis of Beckwith-wiedemann syndrome

  • Changes in the gene location 11p15 result to Beckwith-wiedemann syndrome, this location is the area where imprinted genes are located. Imprinted genes are different from other genes because they contain only one copy from the mother or father side.
  • Usually, genes are expressed with both copies from the parents. But imprinted genes only express a copy from one parent, either the father (paternal copy) or the mother (maternal copy).
  • In Beckwith-wiedemann syndrome the maternal copy of the imprinted gene can be rearranged, or a maternal copy can contain or replaced by an extra gene copy from the father side.
  • An abnormal methylation DNA formation and gene expression is also seen among patients with Beckwith-wiedemann syndrome. DNA methylation is an important process in DNA formation; this is the step where a methyl body is added to the 5 position of cytosine. Any alterations in this process can affect the whole formation of the DNA.
  • When these abnormalities in chromosome location happen, DNA synthesis and expression becomes abnormal. This then leads to a gene expression that rids the cell in the body of the ability to stop cell division.
  • Mutations in the 11p15 chromosome location then lead to the loss of expression or development of mechanisms that should control cell division and cell cycle. Rapid tumor formation and malignancies the result from this.

Beckwith-wiedemann syndrome Diagnosis

1. Assessment of Presenting Symptoms

Beckwith-wiedemann syndrome can be diagnosed through the presence of major and minor features. Though there is no absolute requisite to diagnose Beckwith-wiedemann syndrome, the presence of the features alone can be enough to diagnose the condition.

  • At least three major findings present
  • Two major findings coupled with one minor finding

2. Comprehensive clinical history taking and examination

The presence of gestational diabetes helps in the diagnosis and confirmation of the condition.

3. Molecular tests to confirm the condition

Molecular examinations explore the epimutations present on the 11p15 chromosome location.

4. Uniparenteral disomy or methylation indices

Beckwith-Wiedemann syndrome Treatment

Treatment depends on the presenting symptom and clinical Feature.


  •  This is done to treat the defect in the abdominal wall and macroglossia (tongue enlargement).  The time surgery is done depends on the type of abdominal wall defect, if omphaloele is present (protrusion of the intestines), then immediate surgery is done. The procedure involves placing the abdominal contents back into the abdomen inorder to prevent shock and sepsis.
  • If the child presents with umbilical hernia, surgery is done if the hernia does not resolve until 4 years of age.
  • Diastasis recti usually do not require surgical treatment since it resolves as the child grows up. This condition is a result of the separation of the rectus abdominis muscles.
  • For macroglossia or tongue surgery is done especially if the size of the tongue causes feeding and breathing problems in the child. It involves the removal of a small portion of the tongue, to allow it to fit within the mouth and enable proper growth of the tooth and jaw.

Physiotherapy and Orthopedic Management

This is to treat hemihypertrophy or asymmetry between the right and left sides. Hemihypertrophy can cause orthopedic problems, which can be managed through physiotherapy and use of orthopedic devices.

Cancer Treatment

If the child presents malignancies, cancer treatment such as chemotherapy and radiation therapy is done. Treatment also involves the regular screening for malignancies. This is a vital step to treat cancer as effective treatment follows early diagnosis.


Prognosis is good as long as the cancer does not emerge and the neonatal hypoglycemia is addressed properly. Infants affected by this syndrome can grow into adulthood. Women are advised to go through genetic counseling before pregnancy.


Complications would arise from the following:

  • Malignancies or tumor formation
  • Mental disability if neonatal hypoglycemia is not treated
  • Feeding problems and respiratory distress from macroglossia
  • Infection and shock if omphalocele is not treated

Beckwith-Wiedemann Syndrome Pictures

Beckwith-Wiedemann Syndrome Gigantism Picture

A Baby Born with Beckwith-Wiedemann Syndrome exhibiting Gigantism

Picture of Beckwith-Wiedemann Syndrome Macroglossia

A baby Exhibiting Macroglossia or the Enlargement of the Tongue

Beckwith-Wiedemann Syndrome Symptom image

Ear Pits or Creases in a baby with Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann Syndrome Management pics

A Baby with Beckwith-Wiedemann Syndrome requiring Monitoring to Stabilize the Condition

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