Waardenburg
Syndrome
Waardenburg
Syndrome is a rare genetic disorder that involves deafness, facial
abnormalities and pale skin, hair and eye color. The condition is usually
inherited as an autosominal dominant trait. There are four types of Waardenburg
Syndrome classified as Type 1, Type 2, Type 3 and Type 4, the latter 2 are
rarer.
Symptoms
–
Symptoms
includes, hearing loss, extremely pale eye color, graying of hair, wide-set
eyes, slight intellectual disability, constipation, broad nasal root.
Diagnosis
& Treatment –
Diagnosis
is done by colon biopsy, genetic testing, audiometry and bowel transit time.
There is no known cure for Waardenburg Syndrome; patients are treated according
to the symptoms. Hearing loss is treated as any other irreversible deafness,
special diets are recommended for regular bowel movement.
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