Yemenite deaf-blind hypopigmentation syndrome




Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.



  • cutaneous patchy hypo- and hyperpigmentation on the trunk and extremities 
  • gray hair
  • white brows and lashes
  • nystagmus
  • microcornea
  • coloboma
  • abnormalities of the anterior chamber of the eye
  • severe hearing loss and dental abnormalities.


The cause of this syndrome has not been determined. The inheritance pattern appears to be autosomal recessive.


During a consultation, your doctor will use various techniques in his assesment of the symptom: Hypopigmentation. These may include a physical examination or other medical tests. Your doctor may ask several questions when assessing your condition. It is important to remember that your consultation is a two-way process and any extra information you can share with your doctor may help them with their diagnosis.


See Research Publications