Symptoms & Signs
- Cleft lip (rare)
- Extremely pale blue eyes or eye colors that don’t match (heterochromia)
- Possible difficulty with completely straightening joints (contracture)
- Possible slight decrease in intellectual function
- White patch of hair or early graying of the hair
Diagnosis & Tests
Tests may include:
Review Date : 8/26/2009
Reviewed By : 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.
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