Cri-du-Chat Syndrome -CEW

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====== Cri-du-Chat Syndrome ======
a.k.a. 5p Deletion syndrome

====Main Features====
  * High-pitched cat-like cry in infancy
  * Intellectual disability / Global developmental delay
  * Characteristic craniofacial features
    * hypertelorism
    * epicanthal folds
    * broad nasal bridge
    * micrognathia
    * rounded face   

<WRAP round box 620px>
{{::cri_du_chat.jpeg|}} \\
Figure 1. from Reference 2
</WRAP>

====Eye Findings====
  * External
    * Hypertelorism
    * Epicanthal folds
    * Downslanting palpebral fissures
    * Ptosis
  * Strabismus- usually Esotropia
  * Refractive error
  * Peters anomaly
  * Epibulbar mermaids/ lipodermoid

====Other Findings====
  * Microcephaly
  * Hypotonia
  * Congenital heart defects
====Etiology====
  * 5p deletion
====Resources====
  - [[https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/|National Library of Medicine Page]]
  - [[https://pubmed.ncbi.nlm.nih.gov/16953888/ | Mainardi PC. Cri du Chat syndrome. Orphanet J Rare Dis. 2006:1:33]]
 
{{tag>syndrome}}

syndrome