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--- fragile_x_syndrome [2025/06/01 21:38] – created Scott Larson
+++ fragile_x_syndrome [2025/06/01 21:52] (current) – Scott Larson
@@ Line 1: / Line 1: @@
 ======Fragile X Syndrome ======
 ====Main Features====
-  *
+  * Intellectual disability (most common cause of inherited disability)
+  * Global developmental delay
+  * Autism
 ====Eye Findings====
-  *
+  * Refractive Error (17%)
+    * Myopia
+    * Astigmatism
+  * Strabismus (8%)
+    * Esotropia
+  * Nystagmus- rare
 ====Other Findings====
-  *
+  * Long narrow face
+  * Prominent ears
+  * Macroorchidism after puberty
+  * Joint hypermobility
+  * Mitral valve prolapse
+  * Aortic Root dilation
+  * Seizures (15% males and 5% females
 ====Etiology====
-  *
+  * mutation in FMR1 gene on Xq27.3
+    * results in hypermethylation and no gene product
+    * Gene product- fragile X messenger ribonucleoprotein- protein involved in synapse development and neuronal function
 ====Resources====
-  * [[link|Title]]
+  * {{::ocular_status_of_boys_with_fragile_x_syndrome.pdf |Hatton DD et al. Ocular status of boys with fragile X syndrome: a prospective study. JAAPOS 1998;2(5):298-302}}
+  * [[https://pubmed.ncbi.nlm.nih.gov/28960184/|Pubmed Abstract: Hagerman RJ. et al. Fragile X Syndrome. Nat Rev Dis Primers. 2017;29:3:17065]]
 {{tag>syndrome}}

syndrome