"Beckwith-Wiedemann Syndrome Spectrum" – What Is It?

Beckwith-Wiedemann syndrome spectrum (BWS) is a hereditary disorder characterized by variable abnormalities such as a large tongue, a large body, asymmetrical growth, low blood sugar levels after birth, and an increased risk of cancer in childhood, especially kidney tumors, liver tumors, and others.

Overview of the Chapters on This Page:

  • Beckwith-Wiedemann Syndrome Spectrum – What Is It? (This Section)
  • How Is "Beckwith-Wiedemann Syndrome Spectrum" Diagnosed?
  • What Is the Risk of Cancer?
  • What Is Known About the Development of "Beckwith-Wiedemann Syndrome Spectrum"
  • Is There Any Treatment Available?
  • Medical Measures for Early Detection
  • Beckwith-Wiedemann Syndrome Spectrum – What You Can Do Yourself
  • Links and Further Information (e.g., From Support Groups)
  • Beckwith-Wiedemann Syndrome Spectrum – What Is It? (This Section)
  • How Is "Beckwith-Wiedemann Syndrome Spectrum" Diagnosed?
  • What Is the Risk of Cancer?
  • What Is Known About the Development of "Beckwith-Wiedemann Syndrome Spectrum"?
  • Is There Any Form of Treatment Available?
  • Medical Measures for Early Detection
  • Beckwith-Wiedemann Syndrome Spectrum – What You Can Do Yourself
  • Links (e.g., From Support Groups) and Further Information

How Is "Beckwith-Wiedemann Syndrome Spectrum" Diagnosed?

The diagnosis is made clinically by an expert experienced in syndromes. A point system is used. If the score is ≥ 4 points, a classic BWS is clinically present; if the score is ≥ 2 points, genetic diagnostics should be performed.

Main Criteria (2 points per symptom)

  • Large tongue
  • Umbilical hernia
  • One-sided tall stature
  • Multiple/bi-lateral Wilms’ tumors (these are kidney tumors) or so-called nephroblastomatosis
  • Elevated insulin levels
  • Special pathological findings of the adrenal gland, placenta, pancreas (adrenocortical cytomegaly, placental mesenchymal dysplasia, pancreatic adenomatosis)

Secondary Criteria (1 point per symptom)

    • High birth weight
    • Nevus flammeus (port-wine stain) on the face
    • Lots of amniotic fluid/placentomegaly
    • Ear folds/ear dimples
    • Temporary low blood sugar levels Hypoglycemia/insulin levels too high
    • Typical BWS tumors (neuroblastoma, rhabdomyosarcoma, Wilms tumor, hepatoblastoma, adrenocortical carcinoma, pheochromocytoma)
    • Large kidney/liver
    • Umbilical hernia/so-called rectus diastasis

The diagnosis can be confirmed employing a genetic analysis, whereby the diagnosis is also confirmed without genetic evidence if ≥ 4 points.

What Is the Risk of Cancer?

The risk of cancer depends on the genetic subtype:

  • So-called IC2 hypomethylation 2.6% (mainly liver tumors, also known as hepatoblastomas)
  • So-called IC1 hypermethylation 28.1% (mainly kidney tumors, also known as nephroblastomas)
  • So-called uniparental disomy 16% (mainly nephroblastomas)
  • So-called CDKN1C mutation 6.9% (mainly so-called neuroblastomas)

What Is Known About the Development of "Beckwith-Wiedemann Syndrome Spectrum"?

BWS is caused by a change in the genetic material on Chromosome 11. In most cases, molecular (epigenetic) changes lead to a stronger or weaker reading of genes without the information stored there being changed.

Is There Any Form of Treatment Available?

Body Growth and Lateralized Tall Stature

  • Annual height measurement until height growth is complete, treatment of tall stature by pediatric endocrinologist if necessary
  • Annual examination of leg lengths until the end of height growth, consultation with a pediatric orthopedist if there is a difference in leg length (shoe lift if there is a difference of up to 2 cm, epiphysiodesis if there is a difference of > 2 cm)
  • Usually, no treatment for length differences in the upper extremity

Macroglossia

  • In the case of airway obstruction, a detailed diagnosis, including polysomnography and pulmonological examination, should be carried out.
  • Tongue reduction surgery can be considered after the first year of life in cases of difficulty eating or speaking, persistent salivation, malocclusion, or psychosocial problems.

Hypoglycemia

  • Monitoring of postnatal (afterbirth) blood glucose levels for 48 hours, in case of hypoglycemia monitoring, in a neonatal intensive care unit if necessary
  • Fasting test (measurement of glucose, insulin, and ketones after 6 hours (4 hours for premature babies) of fasting)
  • Treatment of hypoglycemia/hyperinsulinism according to the usual standard

Cardiac Malformations

  • Cardiac examination at the time of diagnosis, consultation with a pediatric cardiologist for echocardiography in the event of clinical abnormalities
  • Treatment according to the usual standard for heart defects

Neurological Development

  • Regular cognitive examination (risk factors for delayed neurological development associated with BWS are postnatal hypoglycemia, prematurity, and carriers of chromosomal rearrangements)
  • An MRI of the skull should be performed if neurological symptoms are present.

Kidney Complications

  • Examination for renal or urological malformations by clinical examination and sonography at the time of diagnosis; in the event of abnormalities, pediatric nephrological presentation and treatment according to the usual standard
  • Another detailed examination (clinical examination, measurement of blood pressure, and sonography) at transition (change from pediatrician to adult physician)

Late Effects

  • Symptoms/complications requiring monitoring should be recorded again at the time of transition (16-18 years) to ensure follow-up examinations.
  • Young people should be made aware of the possibility of genetic counseling before family planning.

Psychosocial Aspects

  • Psychosocial support should be offered on a low-threshold basis.
  • When a diagnosis is made, contact with a support group or affected families should be offered if possible.

Diagnosis of " Beckwith-Wiedemann Syndrome Spectrum" What's Next?

If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.

Diagnosis of " Beckwith-Wiedemann Syndrome Spectrum" What's Next?

If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.

Medical Measures for Early Detection

Embryonic Tumors

  • Depending on the genetic analysis results
  • Abdominal ultrasound every 3 months until the age of 7 for all children with BWS, except for children with IC2 hypomethylation
  • Early detection is not recommended for children with IC2 hypomethylation.
  • No routine screening of the α-fetoprotein
  • No routine screening of urinary catecholamines
  • Early, low-threshold diagnostics are recommended for any clinical symptoms that could be tumor-associated or in cases of parental concern.
  • The recommendations are more intensive in the USA (with α-fetoproteins and sonography in all patients).

"Beckwith-Wiedemann Syndrome Spectrum" - What You Can Do Yourself

You Should Pay Attention to This

It is a good idea to talk to other individuals with BWS. Every new symptom should be clarified by your treatment team.

Further Information

Furthermore, the Beckwith-Wiedemann syndrome spectrum is being researched in our companion project, Liquid Biopsy, so we encourage patients to register for this in addition to the CPS Registry.

Any Further Questions?

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