Waardenburg syndrome

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Broad nasal bridge Sense of hearing

Overview Symptoms Treatment Prevention

Waardenburg syndrome

• Family history of parent with Waardenburg syndrome
• Extremely pale blue eyes or eye colors that don't match (heterochromia )
• White forelock of hair or early graying of the hair
• Deafness (variable degree)
• Possible slight decrease in intellectual functioning
• Occasional cleft lip
• Constipation
• Possibledifficulty with completely straightening joints (contracture)

Examination may show various abnormalities, including:

• Lateral displacement of inner canthi (corners of eye)
• Eyebrows flare in the midline
• Broad nasal bridge
• Deafness
• 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 showing that stool doesn't move through the large bowel normally
• Biopsy of the colon showing 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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