Waardenburg Syndrome

Waardenburg Syndrome is a genetic disorder characterized by hearing loss of varying degrees and partial albinism, or skin and hair pigmentation changes; people with Waardenburg Syndrome also often have different color eyes. It was first defined in the 1950s by a Dutch eye doctor who noticed hearing impairment issues in individuals with eyes of different colors. Statistics indicate that Waardenburg Syndrome actually accounts for about 3% of all cases of congenital deafness. Only one parent has to have the mutation causing the syndrome for their child to be fully affected; there is a 50% chance that a child born of a parent with the syndrome will have the syndrome as well.

One of the most common symptoms of Waardenburg Syndrome, as noted, is the presence of differently colored eyes, usually with one eye brown and the other eye blue. In certain instances, the same eye will have two colors, while in other cases eye color is simply a very brilliant blue. People with this syndrome will often have a streak or patch of white hair or may prematurely gray, often as early as 12 years of age. As mentioned, deafness is another symptom, as is constipation, joint problems cleft lip and intellectual problems; these symptoms may be mild or completely absent in many patients. There are also other physical features associated with the condition.

Waardenburg Syndrome is a genetic disorder characterized by hearing loss of varying degrees and partial albinism, or skin and hair pigmentation changes; people with Waardenburg Syndrome also often have different color eyes. It was first defined in the 1950s by a Dutch eye doctor who noticed hearing impairment issues in individuals with eyes of different colors. Statistics indicate that Waardenburg Syndrome actually accounts for about 3% of all cases of congenital deafness. Only one parent has to have the mutation causing the syndrome for their child to be fully affected; there is a 50% chance that a child born of a parent with the syndrome will have the syndrome as well.

One of the most common symptoms of Waardenburg Syndrome, as noted, is the presence of differently colored eyes, usually with one eye brown and the other eye blue. In certain instances, the same eye will have two colors, while in other cases eye color is simply a very brilliant blue. People with this syndrome will often have a streak or patch of white hair or may prematurely gray, often as early as 12 years of age. As mentioned, deafness is another symptom, as is constipation, joint problems cleft lip and intellectual problems; these symptoms may be mild or completely absent in many patients. There are also other physical features associated with the condition.