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--- waardenburg_syndrome [2025/04/16 03:01] – created Scott Larson
+++ waardenburg_syndrome [2025/04/18 20:40] (current) – external edit 127.0.0.1
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-Waardenburg syndrome
+======Waardenburg Syndrome ======
+====Main Features====
+  * [[sensorineural_hearing_loss|Congenital sensorineural hearing loss]]
+  * White forelock
+  * Hair hypopigmentation
+  * Iris pigmentary abnormality
+====Eye Findings====
+  * Iris pigmentary abnormality
+    * Complete heterochromia
+    * Segmental heterochromia
+    * Complete hypoplastic blue iridies
+  * Telecanthus
+  * Choroidal hypopigmentation
+====Other Findings====
+  * Skin hypopigmentation
+  * Synophrys/medial eyebrow flare
+  * Nasal anomalies
+    * broad high nasal root
+    * prominent columella
+    * hypoplastic nasal alae
+  * Premature gray hair (age <30 years)
+  * Hirschsprung disease
+  * Cleft lip and palate
+  * Spina bifida
+====Etiology====
+  * Autosomal Dominant
+  * Mutations in PAX3, MITF, SNAI2, SOX10, EDN3, EDNRB genees
+====Resources====
+  * {{::waardenburg_syndrome.pdf |Waardenburg syndrome: iris and choroidal hypopigmentation, findings on anterior and posterior segment imaging. Shields CL et al. JAMA Ophthalmol. 2013;131(9):1167-1173}}
+  * [[https://medlineplus.gov/genetics/condition/waardenburg-syndrome/|Waardenburg Syndrome in Medline Plus]]
+{{tag>syndrome}}
-Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging

syndrome