Rubinstein Taybi Syndrome
Andrew S. Levitas, M.D. & Cheryl S. Reid

Rubinstein Taybi syndrome (RTS), is a multiple congenital anomaly syndrome mapped to chromosome locus 16p13.3, characterized by intellectual disability, short stature, microcephaly (small head circumference), broad thumbs, broad great toes and specific dysmorphic facial features. There also appears to be a characteristic behavioral phenotype, with hyperactivity and tics in childhood and Mood Disorders and Tic/Obsessive Compulsive Disorders in adulthood. Neuroleptic induced movement disorders and neuroleptic malignant syndrome appear to occur at increased frequency in individuals exposed to these drugs. Physical, genetic and psychiatric features of the syndrome are reviewed.