Table of Contents

Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann Syndrome

Main Features

Pediatric overgrowth syndrome
- height and weight >97% in first few years of life
- Hemihyperplasia
- Macroglossia
- Abdominal wall defects (omphalocele, umbilical hernia, diastasis recti)
- Visceromegaly
  - single organs or in combination (liver, spleen, pancreas, kidneys, adrenals)
  - Fetal adrenocortical cytomegaly
- Predisposition to embryonal tumor development 7.5%
  - Most occur in the first 8-10 years of life
  - Wilms tumor and hepatoblastoma most common
  - rhabodomyosarcoma
  - adrenocortical carcinoma
  - neuroblastoma

Eye Findings

Strabismus
Hypertelorism, exophthalmos
Nystagmus
Infraorbital creases

Other Findings

Cardiac malformations 20%
Renal malformations (unilateral or bilateral)
- Malformation, renal medullary dysplasia, nephrocalcinosis, nephrolithiasis
Nevus flammeus
mid facial hypoplasia
full lower face with prominent mandible

Etiology

Chromosome 11p15.5 abnormality
- Hypomethylation of differentially methylated region 2 (DMR2)
- gain of methylation of differential methylated region 1 (DMR1)
- CDKN1C mutations
Increased risk for children born with assistive reproductive techniques
estimated incidence 1:13,700

Reference