Waardenburg Syndrome

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Genetic Disorders Project

Waardenburg Syndrome

Brian Tokay

March 4, 2011

Waardenburg Syndrome is an inherited disorder characterized by different levels of hearing loss and changes in hair and skin pigmentation. A common trait of Waardenburg Syndrome is different colored eyes or very bright blue eyes, a low hairline, connected eyebrows, some may have a patch of white hair or grey hair by the age of twelve, and a wide space between the eyes. There are at least four types of Waardenburg Syndrome-Types 1,2,3,and 4 with type 1 and 2 being the most common.

Physical characteristics identify with what type of Waardenburg a person has. For example, wide set eyes are common in type one and hearing impairments occur in twenty percent of type one Waardenburg. Hair discoloration is common in type two and hearing loss occurs in fifty percent of type two Waardenburg. Type three is called Klein-Waardenburg and is similar to type one but includes muscle problems, and type four is called Waardenburg-Shah which is also similar to type one but includes intestinal problems. People may have only some traits of the syndrome and some may have all traits. Rare cases associate Waardenburg Syndrome with other problems like intestinal disorders and spinal problems, and cleft lip/palate which is a facial deformity.

Waardenburg Syndrome was discovered by a Dutch doctor named Petrus Johannes Waardenburg who noticed that people with different colored eyes often had hearing impairments so that made him go on to study over one thousand people in deaf families and found that some had physical characteristics in common such as the wide set eyes or low hairline. Doctor Waardenburg later discovered that the cause of the syndrome is that it is passed from parent to child just as blood type and hair color is passed, and because Waardenburg Syndrome is a dominant condition, a child usually inherits it from one parent who has a malfunctioning gene. There is a fifty-fifty chance that...
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