Radioulnar synostosis-microcephaly-scoliosis syndrome

Definition

A rare syndrome with synostosis and limb malformations, characterized by radioulnar synostosis, short stature, microcephaly, scoliosis and intellectual disability. Majority of the patients also have clinodactyly (and sometimes brachymesophalangy) of the fifth fingers, syndactyly and brachydactyly of fingers. Joint laxity of the fingers and knees can also be present. Additional clinical features may include global developmental/psychomotor delay (notably speech delay), attention deficit, hyperactivity and variable dysmorphic features (including hypotelorism, prominent eyes and nose and dysmorphic ears).