Abstract

Introduction

• Jack Rubinstein and Dr. Hooshang Taybi who recognized this pattern in seven unrelated children first described the condition in 1963. It occurs in an estimated 1 in 125000-300000 births.

Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes.