====== 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====
  * [[https://www.nature.com/articles/ejhg2009106.pdf|Beckwith-Wiedeman syndrome.  Weksberg, Shuman and Beckwith. European Journal of Medical Genetics 2010]]
  * [[https://www.jaapos.org/article/S1091-8531(21)00528-0/fulltext|Ocular manifestations of Beckwith-Wiedemann sydrome. Rohewetz et al. JAAPOS 2021]]

{{tag>syndrome}}