Beckwith - Wiedemann Syndrome

Reports from the MHC data base

Report from the Observation Chart (PDF)

Synonyms

EMG syndrome (Exomphalus = umbilical hernia, Macroglossia = enlarged tongue, Gigantism = overgrowth)

Codes

ICD-10: Q87.3
ORPHA: 116

Estimated occurrence

5 - 10:100 000 live birts

Etiology

Research indicates an imbalanced regulation of the genes on the short arm of chromosome 11. Two probable defective genes for BWS are the gene for insulin-like growth factor 2 (IGF2) and gene H19. Most cases of BWS are sporadic but approximately 15% are familial, with autosomal dominant inheritance.

General symptoms

Increased growth during foetal life and early childhood cause overgrowth and considerable enlargement of most abdominal organs and the musculature. Enlarged tongue musculature is striking. About 25 percent of the children have asymmetric growth. Congenital umbilical hernia is common. Other malformations that may occur are cardiac malformation, inguinal hernia and defects of the urinary and sexual organs. 5-10% of the children develop tumours. The most common tumour is Wilms' tumour, which originates in the kidney. The main medical problems in infancy are umbilical hernia, the risk of severe low blood sugar and respiratory insufficiency due to enlarged tongue.

Orofacial/odontological symptoms

In extreme cases, enlargement of the tongue may lead to impaired breathing and/or feeding difficulties. If the tongue is too large for the oral cavity this may influence speech and cause frontal open bite. The midface may be underdeveloped, and a cleft palate may occur.

Orofacial/odontological treatment

  • Plastic surgery may be required when the tongue is considerably enlarged.
  • Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
  • In cases of cleft palate, a specialist team will be needed for follow up and treatment.
  • When treating medically compromised patients always contact their doctors for medical advice (bleeding problems, heart diseases etc).

Sources

 

  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
  • The Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-09-12 13:40