About 50% of the patients in the DBAR have physical abnormalities (not including short stature). Of these,

• 50% of the abnormalities are of the face and head (including cleft lip and palate),

• about40% are of the upper arm and hand,

• about 40% are of the kidney, and

• 30% are of the heart

 

Approximately 20% of patients have more than one physical abnormality.

Mutations in the genes RPL5, RPL11 and RPS26 have been associated with orofacial clefts and thumb anomalies, respectively.