Rubinstein-Taybi Syndrome Pamphlet

by Garry and Lorrie Baxter

Rubinstein-Taybi Syndrome (RTS) was first described in a case report in 1957, but it wasn’t until 1963 that the two doctors Jack H. Rubinstein and Hooshang Taybi reported on seven children with broad thumbs and great toes, facial abnormalities, and mental retardation.  Since then the syndrome has become readily identifiable and has been reported in hundreds of cases from around the world.  

Characteristics of RTS

Characteristic features of the syndrome include short stature, beaked nose, slightly malformed ears, a highly arched palate, antimongolid slant of eyes, heavy or highly arched eyebrows, small head, broad thumbs and/or great toes.  At times, the thumbs and/or great toes are angulated.  Other common characteristics include a red flat birthmark on the forehead, hyperextensible joints, small tilted pelvis, and extra hairiness.  Males with RTS usually have undescended testicles.

 Mental retardation is associated with RTS.  The extent of mental retardation varies in each individual, with many being of the moderate range in severity, but there are some with mild and some with severe mental retardation.  Each child should be dealt with on an individual basis.  

Medical Problems involved with RTS

Each child is an individual and can have different medical problems.  Children with RTS have a variety of common problems.  However, it is very important to note that your child will NOT have all these problems, and can have very few of the medical issues.  This list is a combination of all children with RTS and what issues they have had.  The medical problems include feeding difficulties, respiratory infections, ear infections, eye infections and abnormalities including tear duct obstruction, excess mucous, and sometimes diarrhea but usually chronic constipation.  Ocular problems, cardiac anomalies, vertebral abnormalities, gastroesophageal reflux and vomiting, kidney abnormalities, and orthopedic problems are frequently found in individuals with RTS.  Surgeons should be aware of the possible problem that some individuals with RTS have under anesthesia, such as altered cardiac rate and rhythms causing arrhythmias.  Children with RTS are at a high risk for aspiration during anesthesia and an endotracheal tube should be inserted for general anesthesia.   It should also be noted that there is a susceptibility to fungus infections of the fingernails and toenails, ingrown nails, and there is a tendency for keloid (raised scar) formation. 

Facts about RTS

The diagnosis of RTS can be made by noting characteristics through a medical and physical evaluation, X-rays of the thumbs pressed flat and of the great toes, and chromosome analysis.  Referral to a genetics specialist or interdisciplinary diagnostic clinic for developmental disorders would by very helpful.  The cause of RTS is still unknown although some type of genetic origin is possible.  Possible cytogenetic chromosome abnormalities have been demonstrated in current studies, but the chromosome analysis is normal, and cases are usually sporadic and generally not considered hereditary.  The recurrence risk for a couple to have a second child with RTS is approximately 0.1%, but an individual with RTS has as high as a 50% chance of having a child with RTS.  RTS is not detectible before birth at this time, but when there are concerns about recurrence, it is theoretically possible that severe defects of the thumb, great toes, heart, or urinary tract might be seen by a highly skilled and experienced expert in prenatal ultrasonogragphy.  Some mothers have reported that during pregnancy they have had high blood pressure, excessive amniotic fluid, and edema.

 Rubinstein-Taybi Syndrome is evenly found in both the male and female population.  The syndrome was thought to be rare but there is an increase in the number of reported cases of RTS each year, making one see that is not as rare as was first estimated.  The syndrome is estimated to occur in about 1 in 100,000-300,000 births, depending on the population being studied.  Because of the variations found in physical characteristics, medical problems, and mental abilities from one individual with RTS to another, some of the mild cases go undiagnosed.  It is very common for a mildly affected person to be diagnosed as late as adolescence because the individual had no severe medical problems, extreme characteristics, or moderate or severe mental retardation.  The diagnosis may be more difficult to make when the individual is not white. 

What can you expect for development of the child with RTS?

Each child with RTS will develop at his or her own rate.  Even though children with RTS do share similarities in appearance, behavior, medical problems, and personality, parents must remember that their child is an individual who will develop to his own potential.  Infant Stimulation and Early Intervention is highly recommended for the child with RTS.  Special emphasis should be placed on speech therapy using a total communication approach and start as early as possible.  Because speech is one of the slowest developmental areas of the child with RTS and because some the children with RTS do not develop verbal speech, signing should be considered initially as a form of communication.  Physical therapy and occupational therapy may help the child with his progress in reaching developmental milestones taken for granted in the “normal” child.

 The severity of the medical problems of the child with RTS must be taken into consideration when establishing a program for development.  Services vary from state to state and many infant stimulation programs can be found as center-based or home-based.  The child with RTS with severe medical problems may be more likely to benefit from home-based services initially and when the health improves, a center-based program may be implemented.  Programs are available and grouped in ages usually 0-3 years, 4&5 years, and school age services of 6-21 years.  All of the programs vary from state to state.  Contact your State Department of Education to find out what is available in your area.

 Parents may wish to seek assistance with the feeding problems, reflux and vomiting, respite care, respiratory training, home therapies, financial assistance for medical expenses, behavior modification, and other assistance required by a child with special needs.  It is important that the person(s) caring for the child with RTS gets to know that child’s individual problems so that it is easier for the caregiver and also makes it more comfortable for the child as well.

The children moderately effected with Rubinstein-Taybi Syndrome

Contrary to what some medical reports say, individuals with RTS are usually very happy, social people.  They love attention and know no strangers.  They have an absorbing smile that has been described in reports as “grimacing”, but in reality their smile radiates the love and acceptance that these children have for everyone around them.  These children love to touch anything and like to manipulate electronic appliances, buttons, knobs and dials.  They love books, water, people, and are very responsive to any form of music.  The average child with RTS will learn to sit and crawl between 1-2 years and will learn to walk between 2-4 years.  He will understand most of what is said to him but may be easily frustrated by not being able to express his needs or wants to others.  He will require assistance and training in self-help areas, e.g. feeding, dressing, toileting, etc.  Special education will be necessary for most individuals with RTS, with spurts of progress and achievements making all the hard work worthwhile.  Many of the individuals with RTS work well one-on-one or in small structured groups.  They seem to do well on a routine schedule and do not like large or loud groups or activities.  

Garry and Lorrie have four children with their third child being born with RTS in 1983. They started the parent contact group in 1984 and continue providing any help that they can to parents and professionals on caring for a child with RTS, and provide a list of families with children with RTS for parental contact. Their group included parents in North America.