Waardenburg syndrome - Symptom
Klein-Waardenburg syndrome; Waardenburg-Shah syndrome
Symptoms may include:
- Cleft lip (rare)
- Deafness(more common in type II disease)
- Extremely pale blue eyes or eye colors that don't match (heterochromia)
- Pale color skin, hair, and eyes (partial albinism)
- Difficulty completely straightening joints
- Possible slight decrease in intellectual function
- Wide-set eyes (in Type I)
- White patch of hair or early graying of the hair
Less common types of this disease may cause problems with the arms or intestines.
Signs and tests:
Tests may include:
- Reviewed last on: 8/4/2011
- Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Morelli JG. Hypopigmented Lesions. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 652.
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