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--- 1p36_deletion_syndrome [2025/03/02 15:40] – Scott Larson
+++ 1p36_deletion_syndrome [2026/08/08 20:11] (current) – [Resources] Scott Larson
@@ Line 1: / Line 1: @@
 ======1p36 Deletion Syndrome ======
 ====Main Features====
-  *
+  * Developmental Delay
+  * Seizures
+  * Brain Malformation
 ====Eye Findings====
-  *
+  * Poor vision responses (visually inattentive) 44%-64%
+  * Strabismus 35%-67%
+    * Horizontal
+    * Duane Syndrome- 2 cases
+  * Refractive Errors
+    * Hyperopia 41%-67%
+    * Myopia 17%-40%
+    * Astigmatism 23%
+  * Nystagmus 13%-23%
+  * Cataract
+    * Unilateral cataract 6%
+    * Bilateral lamellar cataract- 2 cases
+  * Retinal "albinism" 6%
+  * Optic nerve coloboma 3%
 ====Other Findings====
-  * {{::1p36_deletion_summary.png?|}}\\ Reference:[[http://www.1p36dsa.org|1p36 Deletion Syndrome Support]]
+<WRAP round box>
+{{::1p36_deletion_summary.jpg?|}} \\
+from Reference (2):[[http://www.1p36dsa.org|1p36 Deletion Syndrome Support]]
+</WRAP>
+  * Microbrachycephaly
+  * Distinctive facial features
+    * Deep-set eyes, straight eye brows, mid face hypoplasia, broad flat nose, long philtrum, pointed chin, low-set and
+    * backwards rotated ears
+<WRAP round box>
+{{::1p36_syndome_face.jpg|}} \\
+from Reference (1)
+</WRAP>
+  * Brachylactyly
+  * camptodactyly
+  * short feet
+  * Hearing problems
 ====Etiology====
-  *
+  * Deletion of 1p36
+  * 1:5,000 newborns
+  * Most common terminal deletion syndrome
 ====Resources====
-  * [[link|Title]]
+  - [[https://pubmed.ncbi.nlm.nih.gov/18245432/|Battaglia A et al. Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation. Pediatrics 2008;121(2):404-410]]
+  - [[http://www.1p36dsa.org|1p36 Deletion Support]]
+  - [[https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S1091853121003360?returnurl=https:%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS1091853121003360%3Fshowall%3Dtrue&referrer=|Danese C et al. Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletionsyndrome. Journal of AAPOS 2021;25(6):368-370]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EStOtmEbeAFOg3kXLgGEqaEBBOPJRQWg8I9RROoo9Hu0_Q?e=SBwAZO|-]]
 {{tag>syndrome}}

syndrome