Rare syndrome with characteristics of the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. Dysplasia may involve the mitral, tricuspidal, aortic and pulmonary valves. Dysmorphic facial anomalies are usually mild, vary among families and include a dolichocephalic face, broad forehead, ptosis, prominent nose, crowded teeth, high-arched palate and posteriorly angulated and everted ears. The severity of short stature is variable, as is the presence of intellectual deficit. The condition seems to be transmitted as an autosomal dominant trait. [from
SNOMEDCT_US]