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--- cri_du_chat [2025/07/06 21:15] – created Scott Larson
+++ cri_du_chat [2025/07/11 18:03] (current) – Scott Larson
@@ Line 1: / Line 1: @@
 ====== 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