Waardenburg Syndrome
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Diagnosis & Tests
Examination may show various abnormalities, including: - lateral displacement of inner canthi (corners of eye)
- eyebrows flare in the midline
- broad nasal bridge
- deafness (may or may not be present)
- pale to white portions of eye including back of the eye
- small or under-developed bones of the face
- white patches of skin
Tests: - audiometry (hearing evaluation)
- genetic testing of the PAX3 gene on chromosome 2q35
- genetic testing of the MITF gene (type 2 Waardenburg syndrome) on chromosome 3p13
- tests may show that stool doesn't move through the large bowel normally
- biopsy of the colon may show no neural ganglia (Hirschsprung disease) in type 4 patients
- genetic testing of the endothelin-3, endothelin receptor B or SOX10 gene in patients with Waardenburg syndrome type 4.
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