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--- tarp_syndrome [2025/05/18 23:48] – created Scott Larson
+++ tarp_syndrome [2025/06/14 02:21] (current) – [Resources] Scott Larson
@@ Line 2: / Line 2: @@
 ====Main Features====
-  * **T**=Talipes equinovarus; **A** = Atrial Septal Defect; **R** = Robin Sequence; **P**= Persistent left superior vena cava
+  * Initially described as **T**=Talipes equinovarus; **A** = Atrial Septal Defect; **R** = Robin Sequence; **P**= Persistent left superior vena cava
-  * Developmental Delay (100%)
+  * Further investigation reveled the following major findings
-  * Failure to thrive (100%)
+    * Developmental Delay
-  * Respiratory insufficiency (90%)
+    * Failure to thrive
-  * Brain Malformations (100%)
+    * Respiratory insufficiency
-    * Cerebellar/vermis hypoplasia
+    * Brain Malformations
+    * Facial Dysmorphism
+    * Cardiac Malformations
+    * Limb abormalities
 ====Eye Findings====
-  *
+  * Optic nerve hypoplasia (56%)
+  * Cortical visual impairment
+  * Hypertelorism
 ====Other Findings====
-  *
+{{::tarp_syndrome.png?600| }}
+  * From Kumps et al. 2021
 ====Etiology====
   * X-linked pathologic variants of RBM10 gene
@@ Line 17: / Line 23: @@
   * As of 2021- 24 patients in 13 families have been described in the literature
 ====Resources====
-  * [[link|Title]]
+  - [[https://1drv.ms/b/c/31d83ae8e55e0542/EW8YFXEcDANOieZakeZMU1MBayRLkdEKN9sGCofnA6lY8w?e=c97hIn |Kumps C. et al. Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features. Clinical Genetics 2021;99:449-456.]]
 {{tag>syndrome}}

syndrome