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.