Waardenburg syndrome
Alternative Names
Klein-Waardenburg syndrome; Waardenburg-Shah syndrome
Symptoms
- Extremely pale blue eyes or eye colors that don't match (heterochromia)
- White patch of hair or early graying of the hair
- Deafness
- Possible slight decrease in intellectual functioning
- Occasional cleft lip
- Constipation
- Possible difficulty with completely straightening joints (contracture)
Exams and Tests
Tests may include:
- Audiometry
- Genetic testing
- Bowel transit time
- Colon biopsy
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