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Congenital Anomalies

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.

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