Rubistein-Taybi syndrome (RSTS) is a rare multiple congenital anomalies syndrome characterized by growth and psychomotor delay, mainly with a clinical diagnosis. Characteristic of this syndrome, besides typical facial features, is the shape of thumbs and great toes, usually broad and bifid. Mental retardation is often moderate. The incidence is about 1/100,000 at birth. It is possible to obtain a diagnostic confirmation by lab tests in about 60% of patients. A scheduled pediatric follow up is mandatory.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health