Yemenite deaf-blind hypopigmentation syndrome

Overview

Type of disease: Rare conditions

Yemenite deaf-blind hypopigmentation syndrome is a very rare genetic disorder characterized by discolored patches of skin, vision problems, and hearing loss. The syndrome has only been confirmed in two patients. Affected individuals may have patches on their skin that are both lighter and darker than surrounding areas. They may also have gray or white hair, including eyelashes and eyebrows. Other symptoms include vision problems related to malformations of the eye and severe hearing loss. This condition does not affect intelligence.

The inheritance pattern appears to be autosomal recessive. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition in order to have symptoms. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers, their children have a one in four chance (25%) of having the condition.

If you or a family member has been diagnosed with Yemenite deaf-blind hypopigmentation syndrome, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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