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Waardenberg syndrome Causes and Risks:
Waardenberg syndrome is inherited as an autosomal dominant trait. The two dominant features are some degree of hearing loss and partial albinism which may appear as a white forelock in an otherwise dark head of hair, very pale light blue eyes, or two different colored eyes ( heterochromia ). Other findings that may be noted including wide separation of the inner corners of the eyes with a brood nasal bridge and other pigmentary changes of the skin.
Prevention:
Genetic counseling may be valuable for prospective parents with a family history of Waardenberg syndrome.
Symptoms:
- family history of parent with Waardenberg syndrome
- extremely pale blue eyes or
- two different colors of eyes ( heterochromia )
- white forelock of hair
- deafness (variable degree)
- possibly slight decreased intellectual functioning
Signs and Tests:
Examination may show various abnormalities, including: Tests:
Treatment:
No specific treatment is available for Waardenberg syndrome. Attention must be paid to any existing hearing deficit and a hearing aid and appropriate schooling may need to be provided.
Prognosis:
With correction of hearing deficits, affected people should lead a relatively normal life.
Complications:
- hearing loss
- self esteem or other problems related to cosmetic appearance
- slight decreased intellectual functioning (possible, unusual)
Call Your Healthcare Provider:
Call for an appointment with your health care provider if you have a family history of Waardenberg syndrome and plan to have children.
Heterochromia is a condition in which the eyes are differently colored. Heterochromia can be associated with some medical conditions, but the majority of people with heterochromia do not have a medical problem. This individual also exhibits another finding called anisocoria, which means that the pupils are different sizes. This finding is usually medically significant.
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