Rubinstein-Taybi syndrome

Definition:

A disease of unknown origin characterized by marked mental deficiency, broad thumbs and toes, and short stature.

Causes, incidence, and risk factors:

Rubinstein-Taybi syndrome is a rare condition that may be genetic in nature but whose heritability has not been demonstrated. The classic finding is broad thumbs and great toes but the condition is manifested by many other findings including short stature, a peculiar face, low-set ears, port-wine-stain, undescended testicles in the male, and downward slant of the eyes.