====== 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 {{::cri_du_chat.jpeg|}} \\ Figure 1. from Reference 2 ====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}}