Rubinstein-Taybi Syndrome (RTS) is a specific pattern of physical features and development disabilities, and is the result of a chromosomal abnormality, which occurs very early on in a baby's development in the womb. The syndrome is named after US doctors Jack Rubinstein and Hooshang Taybi, who first identified it, and it is estimated that it occurs in between 1 in 100,000 and 1 in 125,000 births. What causes the chromosomal defect is not known, and there is no known cure.
RTS children are all, of course, individuals, but will usually have some (though it is unlikely they will have all) of the following main characteristics:
Physical appearance - beaked nose, highly-arched palate, downward-slanting eyes, heavy or highly-arched eyebrows, broad thumbs and big toes (sometimes angulated, which can be corrected surgically), smaller than average height, and in males, undescended testicles.
Learning disability - ranging from mild to severe. A small percentage will not develop speech.
Health - Feeding difficulties, particularly in the early months, eg difficulties in breast feeding, gastroesophagal reflux, vomiting (sometimes projectile); cardiac defects (most of which can be corrected or treated); eye defects eg. squint, tear duct obstruction, cataracts and glaucoma; constipation; lax muscle tone; high pain threshold.
Behaviour - usually friendly and loving; can be stubborn and reluctant to accept changes in routine; short concentration span; rocking, spinning and hand-flapping, more commonly in early years.
IT IS IMPORTANT to remember that very few individuals will have all of the above-mentioned characteristics, and some individuals will have very few of them. Most RTS children will learn to feed, wash and dress themselves, will make friends, and develop hobbies and interests such as swimming, horse-riding, listening to music, and watching videos and DVDs.
The following give more detailed information about the syndrome and its management, both medical and behavioural:
RTS Information Booklet compiled by RTS Support Group
Management of Rubinstein-Taybi Syndrome by Prof Raoul Hennekam
Rubinstein-Taybi Syndrome Medical Guidelines from American Journal of Medical Genetics
Height/Weight Growth Charts - Male and Female
The RTS "Brown Book" (from 2003 international conference)
If you have further queries on any aspect of RTS, we'll be pleased to try and help - contact us here.