WS facies traditionally are described as elfin. This is a pejorative term, and is very much discouraged by health care professionals who care for WS individuals. Other commonly described problems include peripheral pulmonary branch stenosis, mitral valve prolapse, and hypertension secondary to progressive renal artery stenosis. Other miscellaneous findings include strabismus, hyperacusis, hoarse voice, joint hyperelasticity, and contractures. Deletion size varies, which likely accounts for the heterogeneity of clinical presentation.
Most cases are sporadic, but some autosomal dominant inheritance is described.
In the past, WS was a purely clinical diagnosis made by the presence of a constellation of findings. Obtain a serum calcium if WS is suspected. Hypercalcemia frequently is asymptomatic and generally resolves spontaneously. The major complication of hypercalcemia relates to timing of any corrective cardiac surgery. Nephrocalcinosis and sclerosis of the long bones occasionally are seen in severe cases.