Snijders Blok-Campeau Syndrome -CEW

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====== Snijders Blok-Campeau Syndrome ======
====Main Features====
  *  Intellectual disability, speech problems and distinctive facial features 

{{::snijders-block-campeau-syndrome.jpg|}}
From Reference (1)

====Eye Findings====
  * Hypertelorism common
  * Strabismus 30%
  * CVI 9%
====Other Findings====
  * Macrocephaly
  * Craniosynostosis
  * Atrial Septal Defect
  * Enlarged CSF spaces
====Etiology====
  * Mutations in the [[https://medlineplus.gov/genetics/gene/chd3/ |CHD3 gene]] which encodes for a protein that regulates gene activity through chromatin remodeling. 
====References====
  - [[https://1drv.ms/b/c/31d83ae8e55e0542/EYLeIuWYGLpIuUDevaJTPlEBH6LR1CI1JnTwOSxyay49-w?e=b8YcdF|Snijders Blok et al. CHD3 helicase domain mutations cause a neurodevelopment syndrome with macrocephaly and impaired speech and language. Nature Communications 2018;9:4619]]
  - [[https://medlineplus.gov/genetics/condition/snijders-blok-campeau-syndrome/#causes|Medline Plus entry]]

{{tag>syndrome}}

syndrome