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Waardenburg syndrome type 2 in a young boy

This 7-year-old boy has profound bilateral deafness. He also has partial heterochromia irides; the left eye is bright blue, and the right eye brown with hypochromic blue in the superior irides. His nose is normal. His neurologic examination disclosed intellectual disability with autistic behavior. He does not pay attention or obey simple commands. He has no evidence of gross motor or sensory deficits. (Contributed by Dr. Laura Flores-Sarnat.)

Related Media

Associated Disorders

  • Anosmia
  • Kallmann syndrome
  • bilateral sensorineural deafness
  • blue irises
  • hypogonadotropic hypogonadism
  • white forelock