What is the Beckwith-Wiedemann syndrome spectrum?

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

How is the BWSp diagnosed?

The diagnosis is made clinically by an expert experienced in syndromes. A point system is used. At ≥ 4 points is clinically a classical BWS available, at ≥ 2 points should be genetic diagnostics.

Main Criteria (2 points per symptom)

  • Large tongue

  • Umbilical hernia

  • Unilateral large growth

  • Multiple/bidirectional wild tumors (these are kidney tumors) or the so-called nephroblastomatosis

  • Increased 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 pits

  • Temporary low blood sugar hypoglycemia/too high insulin levels

  • Typical BWS tumors (neuroblastoma, rhabdomyosarcoma, Wilms’ Tumor, hepatoblastoma, adrenocortical carcinoma, pheochromocytoma)

  • Large kidney/liver

  • Umbilical hernia/rectus diastasis

The diagnosis can be confirmed by means of a genetic analysis, whereby at ≥ 4 points are also confirmed without genetic proof of the diagnosis.

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 called hepatoblastomas)

  • So-called IC1 hypermethylation 28.1% (mainly renal tumors, also known as nephroblastomas)

  • So-called Uniparenteral Disomy 16% (especially nephroblastoma)

  • So-called CDKN1C mutation 6.9% (mainly so-called neuroblastoma)

What causes BWSp?

BWSp is caused by a change in the genetic material on chromosome 11. In most cases there are molecular (so-called epigenetic) changes that lead to a stronger or weaker reading of genes without the information stored there being changed itself.

Is there a treatment?

Body Growth and Lateralised Large Growth

  • Annual measurement of body size until completion of size growth, if necessary treatment of high growth by pediatric endocrinologists

  • Annual examination of the leg lengths until completion of size growth, in case of difference in leg length consultation with a pediatric orthopedist (shoe elevation in case of difference up to 2 cm, so-called epiphysiodesis in case of difference > 2 cm)

  • Usually no treatment for length differences of the upper extremity


  • In the case of obstruction of the respiratory tract, a detailed diagnosis including so-called polysomnography and pulmological examination should be carried out.

  • If you have difficulty eating or speaking, persistent salivation, malpositioned teeth or psychosocial problems, tongue reduction surgery may be considered after the first year of life.

Abdominal Wall Defects

  • Treatment according to usual standard, no specific recommendation for BWS


  • Monitoring of postnatal (postnatal) blood glucose levels for 48 hours, in case of hypoglycaemia monitoring in a neonatal intensive care unit if necessary

  • Fast test (measurement of glucose, insulin, ketones after 6 hours (4 hours for premature babies) sobriety)

  • Treatment of hypoglycaemia/ hyperinsulinism according to usual standards

Cardiac Malformations

  • Cardiac examination at diagnosis, in case of clinical abnormalities consultation of a pediatric cardiologist for echocardiography

  • In case of heart defects treatment according to usual standard

Neurological Development

  • Regular examination of cognitive examination (risk factors for delayed neurological development associated with BWS are postnatal hypoglycemia, preterm birth and carriers of chromosomal rearrangements)

  • In case of neurological symptoms, an MRI of the skull should be performed.

Kidney Complications

  • Examination for kidney or urological malformations by clinical examination and sonography at diagnosis, in case of abnormalities child nephrological presentation and treatment according to usual standard

  • Re-examination (clinical examination, measurement of blood pressure and sonography) in transition (change from pediatrician to adult physician)

Late Effects

  • At the time of transition (16-18 years), symptoms/complications requiring control should be recorded again to ensure follow-up.

  • Adolescents should be advised of the possibility of genetic counseling prior to family planning.

Psychosocial Aspects

  • Psychosocial support should be offered on a low-threshold basis.

  • If possible, contact with a support group or affected families should be offered when a diagnosis is made.

Surveillance Recommendations for the Early Detection of Cancer

Surveillance Recommendations

Embryonic Tumors

  • Depending on the genetic analysis results

  • Abdomen sonography every 3 months until 7 years of age for all children with BWSp, 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 diagnosis is recommended for any clinical symptoms that may be tumor-associated or for parental care.

  • The recommendations are more intensive in the USA (with α-fetoproteins and sonography in all patients).

Self-Care and Support

What should I pay special attention to?

It makes sense to exchange ideas with other affected people. Every new symptom should be clarified by your treatment team.

Support Groups and Additional Information