Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing particular types of noncancerous brain and skin tumors.

Other names

Broad thumb-hallux syndrome; RSTS; RTS

Inheritance pattern

Autosomal dominant

Related genes

CREBBP; EP300

Source: MedlinePlus Genetics, U.S. National Library of Medicine.