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waardenburg_syndrome [2025/04/15 21:13] – [Eye Findings] Scott Larsonwaardenburg_syndrome [2026/09/07 15:11] (current) – [Other Findings] Scott Larson
Line 14: Line 14:
   * Choroidal hypopigmentation   * Choroidal hypopigmentation
 ====Other Findings==== ====Other Findings====
-  * Skin hypopigmentation +  * **Skin hypopigmentation** 
   * Synophrys/medial eyebrow flare   * Synophrys/medial eyebrow flare
   * Nasal anomalies   * Nasal anomalies
Line 21: Line 21:
     * hypoplastic nasal alae     * hypoplastic nasal alae
   * Premature gray hair (age <30 years)   * Premature gray hair (age <30 years)
 +  * Hirschsprung disease
 +  * Cleft lip and palate 
 +  * Spina bifida
 +
 ====Etiology==== ====Etiology====
   * Autosomal Dominant   * Autosomal Dominant
Line 26: Line 30:
 ====Resources==== ====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}}   * {{::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}} {{tag>syndrome}}