|
|
|
|
|
|||||
Cash Counts makingcontact.org
Subscribe to the Contact a Family Directory 
This site complies with the HONcode standard for trustworthy health information: verify here.
Rubinstein Taybi syndrome
Background
Rubinstein Taybi syndrome: Broad Thumb-great Toe syndrome
Children with Rubinstein-Taybi syndrome (RTS) usually have a normal birth weight, but subsequent growth is poor, with most children being of short stature with a small head size. 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 convex nose, full lower lip and down-slanting eyes. Undescended testes occur in males. Other variable features include congenital heart disease and kidney abnormalities, eye and hearing problems, increased keloid (scar tissue) formation, unusually shaped teeth, feeding difficulties in infancy and constipation. Seizures may occur. There is a small increase in the chance for developing tumors (mainly leukaemia). Most children with Rubinstein-Taybi syndrome have friendly and loving personalities, as adults, they can become somewhat more difficult and demanding.
Psychological and behavioural characteristics 
