Developmental delay is usual, but varies from mild to severe. The most striking physical feature is broad, sometimes angulated thumbs and first toes. The facial features vary with age and include a prominent beaked nose and downslanting eyes.
Undescended testes occur in males.
Other variable features include congenital heart disease and kidney abnormalities, eye and hearing problems, feeding difficulties in infancy and constipation. Seizures may occur. Most people with Rubinstein-Taybi syndrome have friendly and loving personalities. Inheritance patterns Rubinstein-Taybi Syndrome, although a genetic disorder, usually affects only a single person in the family. None at present The information below has been drawn up by Dr Orlee Udwin of the Society for the Study of Behavioural Phenotypes.