Dermatologic Manifestations of Waardenburg Syndrome Differential Diagnoses

Updated: Feb 08, 2019
  • Author: Lyubomir A Dourmishev, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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DDx

Diagnostic Considerations

Woolf syndrome (the association of albinismus circumscriptus and deafmutism without other features of Waardenburg syndrome) consists of separated genetic defects with autosomal dominant inheritance; however, the distinguishing structural ophthalmologic abnormalities of dystopia canthorum, broad nasal root, and synophrys are not found in either piebaldism or Woolf syndrome.

Fisch syndrome is a distinct entity with early graying of the hair and congenital deafness.

Hermansky-Pudlak syndrome is autosomal recessive oculocutaneous albinism and bleeding problems due to an abnormality in platelet aggregation.

Rozycki syndrome is autosomal recessive deafness associated with vitiligo.

Differential Diagnoses