ABSTRACT
Waardenburg syndrome is an uncommon genetic disorder; clinical findings involve the skin and hair and accompany the systemic symptomatology. Since the skin and hair changes are present very early in life, their presence is especially important in children.
The sites of involvement are accessible to clinical examination, and the features suggestive for this condition can guide clinical decisions and patient management. Moreover, the presence of discrete clinical findings in the family members of a proband can aid in establishing diagnosis. As with many other diseases, a rapid diagnosis and, where available, early treatment are very important in the prognosis of the patient, especially in cases of life-threatening bowel involvement or in those with sensorineural deafness.
