Much of the information available about RTS is in the form of papers and articles written by medical professionals, and as such is impersonal, and uses medical terms and language that are not easily understood by everybody.
10 years ago we created a booklet because there was a need for information for families and carers which was easy to read, and which included personal experiences of people living with the syndrome on a daily basis.
The original booklet is still available as a pdf download and we are currently updating it and making the sections more readily available on this page.
Please click on the + sign for more info on any aspect of RTS.
What is Rubinstein-Taybi Syndrome?
RTS is a specific pattern of physical features and development disabilities that occur together in a consistent fashion.
A syndrome is a group of features that together characterise a medical disorder.
In 1963, Dr Jack Rubinstein (a paediatrician) and Dr Hooshang Taybi (a radiologist) examined seven children with an intellectual disability, short stature, broad thumbs and broad big toes. Following diagnosis, the syndrome was initially named the ‘broad thumb-hallux syndrome’. Later researchers re-named the syndrome after the two founding doctors, hence, Rubinstein-Taybi Syndrome.
It has been estimated that the syndrome occurs in one of 100,000 to 125,000 babies, depending on the population being studied. It occurs in all races and equally between boys and girls. Since the syndrome has become readily identifiable there are more than a thousand cases reported from around the world.
Why does RTS happen?
At present it is not possible to detect RTS in routine screening during pregnancy.
An abnormality of chromosome 16 or chromosome 22, meaning they are damaged, missing or untraceable, is thought to be the cause of this collection of features and disabilities called RTS.
There is no evidence to suggest that anything done or not done, before or during pregnancy causes a child to be born with RTS and there is no known cure.
Is RTS hereditary?
RTS is present at birth and is caused by a change in a genetic trait. It is usually not inherited from one of the parents but started in the child.
The possibility of producing a second child with the syndrome in the same family is only minimally raised and the chance of this happening is certainly much less than 1%.
Multiple births may result in all the babies having RTS if they are identical, but apart from these instances, there is only one family that is known to have two children with the syndrome. The chance of siblings going on to have a child with RTS is no greater than that for the rest of the population.
If someone with RTS develops to such a level that he or she is considering having children, then the chance a child is again affected is about 50%. If the cause of RTS in the parent is known before the pregnancy, it would be possible to check for it by pre-natal diagnosis, but if the cause is unknown no reliable prenatal diagnosis is possible.
After diagnosis it is extremely difficult to tell parents how their child will develop. What is clear is that a baby with RTS will develop into a toddler, schoolchild and adult, the great majority of children will laugh, talk, crawl, walk, ie have a degree of physical activity, but there will be delayed development.
Often, there are no serious problems, and specialist referral occurs when the parents notice delayed developmental milestones such as sitting, crawling or talking. Sometimes it is possible to confirm diagnosis through specific chromosome investigations but usually observing the child and listening to the parents’ story makes it.
Most children are born full term, usually after an uncomplicated pregnancy. The birth weight and height tends to be around average. Some mothers have reported that they have had high blood pressure, excessive amniotic fluid and increased foetal movement or decreased foetal movement.
The babies are often quiet, passive and tend to sleep a lot. The baby usually has a round face, a small head size, abundant dark hair, a prominent nose, small mouth and a high palate. Sometimes they are born with a temporary red birthmark on their forehead; nearly all have broad and sometimes angulated thumbs and big toes.
Some parents are given the news that their child has a disability at birth. Others receive a diagnosis after months or years, often knowing or suspecting that ‘something was wrong’ from an early age. You may be given, or find, a lot of negative information about RTS, such as a number of things that their child “won’t be able to do”, or a list of medical conditions associated with the syndrome.
If that is the case, it can help to remember that seldom do people with RTS have all the conditions commonly listed (some have very few); and no-one can predict with any certainty what limitations to their abilities your child will eventually have.
Depending on the timing of the diagnosis and the way in which you discovered it, your feelings and reactions will vary in nature and intensity. Parents go through many of the same emotions that would be felt had they experienced bereavement. This includes feelings of grief, shock, disbelief, denial, anger, isolation and then acceptance.
If you were told at, or shortly after birth that your baby had RTS, the shock and grief may be particularly intense. This is because when most parents are expecting a baby, they are expecting a ‘normal’ and ‘perfect’ baby. After nine months, adjusting to a baby whether or not he/she has RTS, is a major task. If you have been told that your baby will have extra needs, this period of adjustment will be even greater.
If you were told sometime after the birth, you may feel some relief that eventually someone is listening to you, that you are no longer labelled as being a neurotic parent, and that you have a name to put to your child’s condition.
Reactions and emotions to RTS diagnosis
Reactions and emotions experienced by all or some parents, and at different times include:
Denial, shock, numbness, reflection
This is an immediate reaction to the news. It will take time to mentally adjust and understand the new circumstances while initially not wanting to believe that your child has RTS.
Euphoria, minimising the problem
This is an early stage of acceptance; feeling positive about the situation, seeing hope and making the best of the situation.feeling positive about the situation, seeing hope and making the best of the situation.
For a period the parent(s) may go back, in reality of thought – was there
something we could have done? Should we have known something was wrong?
Not having control or a choice over the situation can often lead to anger and frustration. There may be feelings of wanting to blame someone.
Many parents experience a great sense of guilt about having a child with RTS. Parents should not feel guilty for there are no facts whatsoever to support the idea that you could have prevented your baby being born with RTS. It is a genetic disorder. There may be self blame, or your partner may think that you did something, or ate something when you were pregnant. Other siblings and grandparents may also experience the feeling of guilt.
For a time you may feel that you have no motivation, getting up in the morning is an effort, interest in the baby/child is less. This can express itself through feelings of pessimism and can lead to difficulties in eating and sleeping. You may find yourself crying and losing interest in life and the people around you. If you think you are suffering from depression, it is important to seek professional help eg your GP.
Feeling sadness and grief is totally understandable and must be expected.
These feelings are very similar to those experienced when you have lost someone close to you. Although you
have not lost a child in terms of his or her life, you have lost the child you hoped for and you have to change the expectations you have for him/her.
Letting go and taking up the challenge. It takes time to come to terms with all these feelings but gradually it does happen.
It is important to talk about how you feel with someone who understands. A
listening ear can be found within the RTS Support Group, but there is sometimes
a need for more professional help – perhaps the family doctor.
Many of the reactions and emotions seem negative but remember with time and support, the vast majority of parents do cope. Children with RTS – like all children – are both challenging and rewarding: it is an experience that puts life in perspective.
RTS – early years
Most RTS children are born with a physical appearance different from their family background with features and characteristics being recognised by an experienced paediatrician/clinical geneticist.
Each child’s development is unique and the following information covers the most apparent characteristics.
Nearly all parents face problems with feeding their child. During the first months, breast feeding can be difficult. The baby often drinks slowly and maybe vomits much of the feed and growth may fall below average as a result. As the child gets older there can be a tendency to become quite sturdy. Babies are prone to chest infections. They often have colds, which they can’t quite shake off and this also can make feeding particularly difficult.
Gastro-oesophageal reflux and vomiting can be a major problem resulting in a failure to thrive; vomiting can often be described as “projectile vomiting” when the entire feed is vomited with some force.
Congenital abnormalities of the heart appear in around a third of babies born with RTS. They have a variety of cardiac defects which are detected initially by a “murmur”, which is simply an extra noise heard by a doctor listening to the baby’s heart. The term “heart murmur” does not tell the doctor the exact problem, but simply that there is a noise that will probably require further investigation.
This will either be organised by a paediatrician or by a more experienced doctor specialising in heart problems (Cardiologist). The cause of a murmur will vary with some being harmless and simply requiring further monitoring. Sometimes children do require surgery at a later date.
RTS individuals are notable for their friendly and cheerful character. They make contact easily and are very affectionate. Their life expectancy is normal and they continue to learn new skills throughout their life.
The table below lists the average age and range of milestones attained and should be used only as a guide and for reference.
|Rolled over||7||2 – 24||2 – 5|
|Crawled||15||8 – 30||7 – 10|
|Sat up||11||6 – 30||5 – 8|
|Walked||30||15 – 54||11 – 15|
|First words||25||6 – 57||9 – 13|
|3 word phrases||65||24 – 156||14 – 24|
|Toilet trained||63||30 – 216||24 – 27|
|Rode tricycle||68||42 – 216||36 48|
Common characteristics of RTS
Risk of developing keloids or excessive scar tissue resulting from trauma or surgical procedure.
There are thought to be congenital defects in approximately a third of people with RTS. Some are innocent heart murmurs requiring no treatment.
There is a small percentage for whom speech will not develop, but most will speak between the ages of two to four. Children often understand more than they express verbally. Speech and language therapy can play an important part.
Cryptorchidism in males
This means undescended testicles. Nearly always an operation is needed to correct this.
Microcephaly (small head size); prominent forehead, broad nasal bridge and deviated septum.
Slightly malformed ears; beaked nose, a highly arched palate, downward slant of the eyes (downward slant towards the outer corners), heavy or highly arched eyebrows.
A typical deviation of the permanent teeth known as ‘talon cusps’ (little hooks on the underside of the incisors).
Over 80% of people with RTS have some sort of abnormality. It could be tear duct obstruction causing sticky eyes, conjunctivitis, cataracts, glaucoma and/or problems.
Hands and feet
Broad thumbs and first toes, at times the thumbs and/or toes being angulated. Corrective surgery is possible in severe cases. Can be prone to fungal infections of the nail beds, and ingrowing toenails.
RTS – puberty
In most cases, the onset of puberty occurs around 12 years of age, which is similar to the rest of the population. In exceptional cases, this can occur as young as ten years old and also as late as 16 years old, or even around 30 years old. Young women begin to have menstrual cycles at the usual age as well. Some women can suffer from extreme blood loss during their period or from bleeding between periods. Taking the pill can help to regulate periods in these cases.
It has been reported that two women with RTS, have had children. One woman had an unaffected child and a son born with RTS. The other gave birth to an unaffected child. We must then assume individuals with RTS are physically capable of having children. The chance that they then pass on the syndrome could be as high as 50%.
On the whole, adults with RTS are healthy and seldom ill with common ailments such as colds. Life expectancy is normal. A small number of adults never overcome their feeding problems. They continue to choke easily and vomit often.
There can be an increased need for sleep as they mature, this needs to be recognised, as if not, they can become bad tempered and difficult to get on with. A mid day nap is just the tonic.
The majority of young people and adults can amuse themselves well: music, swimming, looking at books, puzzles, cycling, supervised horse riding and dancing remain favourite pastimes. They remain cheerful and still have a friendly disposition. Individuals should be encouraged to develop any interest they may have. Sport could improve hand/eye co-ordination, improve physical strength, and help combat any tendency to be overweight. Social contact could then be encouraged through these hobbies, as there is a tendency for individuals to isolate themselves as they get older.
Individuals with RTS tend to be shorter than their peers throughout life. The average height in adult males is 5’5”, while in females it is 4’10”. Like all children, the height is variable and will also be affected by family background.
Boys tend to be overweight during school age years, often being described as stocky or sturdy in build. Girls may be overweight in adolescence. This can be a serious issue for some individuals.
Additional Information – FIND Resources
The FIND Resources website is an excellent source of information about a number of rare genetic conditions. It offers comprehensive information about Rubinstein-Taybi syndrome, including physical characteristics, health and behavioural issues. As well as being a useful resource for family members and carers of individuals with RTS, it can be used to direct health professionals who have limited knowledge of the syndrome, to enable them to offer affected families appropriate support and make referrals to relevant specialists.
The FIND website summarises findings from high quality research studies into genetic syndromes. It was built by the Cerebra Centre for Neurodevelopmental Disorders (University of Birmingham) in partnership with Aston University, the Economic and Social Research Council and syndrome support groups to reduce the amount of time it takes research findings to reach parents, carers and professionals – the people who need the information the most.