Rubinstein-Taybi syndrome

People with Rubinstein-Taybi syndrome (RTS) do have distinctive facial features. They often look like other people with RTS. Because of this, your child with RTS may look different than his/her siblings. However, RTS is only one aspect of your child and so therefore you may also notice familial features and traits in your child. There is variability in the distinctive facial features and every child is unique.

Not all people with Rubinstein-Taybi syndrome develop cancer. Having RTS does put a person at a higher risk to develop tumors. These tumors can sometimes develop into cancer. Some tumors are benign and will not develop into cancer. It is important that if a person with RTS notices a new health problem or growth, that he/she be seen by a doctor to be evaluated. Also certain types of blood cancers like leukemia are more common in RTS. A person with RTS should continue to followed closely throughout his/her whole life to monitor for these types of conditions.

One of the main features of Rubinstein-taybi syndrome is short stature. Often babies have difficulty gaining weight at first. This improves over time and people with RTS can actually be heavier than their peers in childhood and adulthood. The height does not usually catch up and people with RTS are typically shorter than people the same age. For example, males with RTS have an average adult height of 5 feet. Females are usually a few inches shorter.

People with Rubinstein-Taybi syndrome can have intellectual disability. The range of abilities varies between each person. The reported span of IQ has been from 25-79. There can be significant delays in milestones such as walking and talking. In one study, the average age for walking was 30 months. The average age of first words was 25 months with speech delay reported in 90% of people. The issues with speech tend to be more significant and some children may remain nonverbal. Because every child is different, it is important to treat each child as a individual and focus on that person’s strengths and weaknesses.

There is not any health problems typical in Rubinstein-Taybi syndrome that prevents a person from having a child. Most people with RTS do not have children. This is typically due to the developmental and intellectual differences seen in the condition. When a person with RTS reaches reproductive age, it may be important to discuss with your doctor options for prevention of pregnancy if pregnancy is not desired.

There are protections in the united States to ensure that people cannot lose insurance if they get a genetic diagnosis. In 2008, a law was passed called GINA. GINA stands for the Genetic Information Nondiscrimination Act. The purpose of this law was to protect people who have had, will have, genetic testing or a genetic condition from losing health insurance. It does not protect against life insurance. For more information about GINA, visit http://ginahelp.org/

Not all insurance companies will cover the cost of the testing for a genetic condition. It is important to discuss this with your doctor or genetic counselor before having testing done on your child. For more infromation about insurance coverage in genetic testing, visit the National Society of Genetic Counselors website.

The exact way that changes in CREBBP and EP300 cause Rubinstein-Taybi syndrome is unknown. The protein CREB binding protein works in the body by helping cell division and growth. Gene changes can result in less than half the amount of CREB binding protein being created. This may lead to developmental differences of parts of the body like the thumbs, toes, heart, kidneys, eyes and also leads to differences in learnign and development after birth. The exact way this occurs is unknown. The EP300 gene is also important for development. This gene is important for telling other genes and proteins how to work properly in the body. While the signs and symptoms of people with EP300 changes are similar, there is some evidence to say that the thumb and toe differences are more mild.

Rubinstein-taybi syndrome (RTS) does not commonly run in families. Most changes in the CREBBP and EP300 gene, associated with RTS, are de novo which means that these occur brand new in the affected person. However, there have been rare cases of multiple people within a family having RTS. Therefore, if there are concerns about multiple people having this condition, it is important to speak with a medical doctor about genetic testing.
When a child is determined to have RTS, a doctor may order testing for the parents to ensure that the genetic change was not inherited. It may be important to speak with a genetic counselor about testing options and when a person should or should not have testing. To find a genetic counselor near you, access the "find a genetic counselor" tool on the nsgc.org website.

There are several organizations that a person with Rubinstein-taybi syndrome can contact to meet other people with the same condition. Within the US, the Rubinstein-taybi.com site gives information about the listserv (email connection) and also social media sites specific for people and families with RTS. Also on this site is information about organizations in multiple other countries specific to RTS.

You may want to also ask your main doctor or center for excellence on RTS to put you in contact with other families with RTS. There may be local support groups that are specific to a given geographic area.

People with Rubinstein-taybi syndrome almost always have learning and developmental delays. Developmental therapies can help children with RTS meet their milestones such as walking and talking. These may include:
Physical therapy: works with gross motor skills such as sitting, walking and running
Occupational therapy: works with fine motor skills such as holding a pencil, using utensils, picking up objects
Speech therapy: works with feeding and speech skills
Special education: specific accomodations within the school system to help a child with his/her individual learning concerns.
Behavioral therapy: can help to improve adaptive behaviors and reduce aggression, frustration or attention difficulties

A diagnosis of a genetic disorder such as Rubinstein-Taybi syndrome (RTS) can be overwhelming for families. There is several sepcialty doctors that your child may need to see to be evaluated further. This list is not all inclusive so you will want to work closely with your doctor to be sure your child is getting care specific to his/her needs.
– Heart doctor (Cardiologist): about 1/3 of people with RTS can have heart differences
– Eye doctor (ophthalmologist): disorders of eye development and function are common in RTS. It is important to have your child evaluated by a eye doctor to look for cataracts, coloboma, strabismus and other eye disorders.
– Kidney or bladder doctor (nephrologist or urologist): your child may need a ultrasound to look for differences within the urinary tract are also seen in RTS. It may be important to have an ultrasound of the kidney and urinary tract to be sure that there is not any issues. Also boys with RTS very commonly have undescended testes. This means that the testes never drop into the scrotum. If this does not occur by itself, surgery is needed to bring the testes down.
– genetic doctor (Geneticist): if your child was not seen or diagnosed by a genetic specialist, it can be important to schedule an appointment to see someone. This doctor can help make sure the proper evaluations and tests are completed as well as discuss risks to other family members or future pregnancies.
– Primary Care doctor: Short stature and poor growth is a common feature of this condition. It is important for your doctor to keep track of height and weight for your child.
– Developmental doctor or early intervention evaluation: development is typically delayed in RTS. Early intervention programs can help provide therapies which may help with developmental milestones.
– Your doctor may also recommend other evaluations such as hearing testing, imaging of the spinal canal, assesment for feeding difficulties, reflux or constipation, dental evaluation for missing, extra or abnormal teeth, evaluation for sleep apnea if you child is snoring.

Children with Rubinstein-taybi syndrome tend to have more medical problems compared to children without RTS. Because of this, raising a child with RTS involves more doctor visits and testing. Also it typically means that a child with RTS will require extra support in school and in life. Not all people with RTS are able to live independently in adulthood. Raising a child with RTS will also have the same or similar joys and benefits as raising a child without RTS.

Recieving a diagnosis of RTS can be overwhelming for families. Some families find it helpful to speak with other families who have older children with the condition. If this is something that would be helpful to you, there are organizations which have information such as contacting other families with RTS. The Rubinstein-Taybi US organization can be found here.

Rubinstein-taybi syndrome was first described in 1963 by two physicians, Dr. Rubinstein a pediatrician and Dr. Taybi a radiologoist. Since first being described, research has led to discovery of the two known genes, CREBBP and EP300, associated with the signs and symptoms of condition. Also research has better characterized the role of these genes within the body and possible ideas about how these genes when changed result in disease. More recent research and clinical trials has focused on the effectiveness of certain medicines in the neurological issues seen in this condition.

People with Rubinstein-Taybi syndrome can live an average lifespan. However, the signs and symptoms of RTS do put people at increased risk for more significant health problems. Certain health conditions such as heart defects and respiratory difficulties may impact overall survival for people with RTS. Also, some babies are born with a severe form of RTS in whicih they may not gain weight well and may have frequent infections. Not every person with RTS will have these severe health problems. When a child is diagnosed, it is important to get medical evaluations performed so that health problems can be treated quickly and properly. It is also important for a person with RTS to be followed over time due to the increased risk for certain types of cancers.

Rubinstein-Taybi syndrome (RTS) is an autosomal dominant condition. This means that while each person has two copies of the CREBBP and EP300 genes, only one changed copy is required to show signs and symptoms of RTS. Often due to the intellectual deficits in RTS, people with RTS do not have children of their own. However because of the variability of the intellectual dsiability associated with RTS, people with RTS can have children of their own. The risk to each child of a person with RTS is 50%. If a person with RTS was interested in having children, he/she could consider speaking with a prenatal genetic counselor in more detail about the chance to pass on the condition to his/her children. A genetic counselor near you can be found by using the "find a genetic counselor" tool on the National Society of Genetic Counselors Website.

Rubinstein-Taybi syndrome is a genetic condition that often is described as having distinctive facial features, broad thumbs and/or toes, shorter than average and learning and development differences. This condition can also affect other parts of the body such as the heart, eyes, and kidneys. The distinctive facial features can include downslanted palpebral fissures (difference in the shape of the eyes), low hanging columella (difference in the shape of the mouth) and a unique smile. The main signs and symptoms of the condition can vary between people. Not all people with Rubinstein taybi syndrome will have all of the health problems descirbed in the condition. People with this condition are also at risk for developing tumors that may or may not develop into cancer. It is important for people with this condition to be followed closely by a doctor to get the risk care.

Rubinstein Taybi syndrome can sometimes be called different names. These include:
Rubinstein Syndrome
Broad thumbs and great toes, characteristic facies, and mental retardation
Broad thumb-hallux syndrome
RSTS
RTS

The health problems associated with Rubinstein-Taybi syndrome can change over time. At certain parts of life, it may be more important to pay more attention to one body system over another. Below is a general list of certain health problems to focus on during specific times of life.

Infancy:

Rubinstein-Taybi syndrome (RSTS) is caused by gene changes in either the CREBBP gene or EP300 gene. About 50-60% of cases of RSTS occur from changes in the CREBBP or missing pieces of chromosome 16 including CREBBP. A small percentage of case 3-8% occur from changes in the EP300 gene. There is about 30% of cases of Rubinstein taybi syndrome that a genetic cause is not identified.

Rubinstein-Taybi syndrome is caused by gene changes in the CREBBP and EP300 gene. Testing of this gene can give several results. Testing results can be positive which means the change identified is expected or known to result in disease. Testing results can be negatvie which means there were no significant changes in the gene identified. Testing results can also be uncertain. This is referred to as a "variant of uncertain significance". These are changes identified within the gen but which lack enough information to say with certainity that disease is expected.
If a variant of uncertain significance is identified in your child, your doctor may want to follow your child more closely over time. These changes can be reclassified as either positive or negative when more information is learned about the change. It is important to discuss with your doctor the details of any genetic testing result. The best person to help explain the results of a genetic test is a genetic specialist such as a geneticist or genetic counselor. To find a genetic counselor near you, use the "find a genetic counselor" resource on the nsgc.org website.

There are rare cases of parents with normal intelligence carrying a gene change for RTS in some of the cells of their body. This is referred to as somatic mosacism. People with somatic mosaicism may not have the main features of the condition because the gene change is only present in some of the cells. If some of the egg or sperm cells of the parent has the gene change, this could be passed along to a child without the parent being aware. This is referred to as germline mosaicism. The child would then have RTS. This is important because if a parent has germline mosaicism, there is an increased chance to have another child with RTS.

When a child is diagnosed with RTS, the doctor may recommend that a parent be tested for the gene change as well. It is unlikely that a parent with carry the gene change but it is important information for recurrence risk counseling. If a parent is found to have germline mosacism, he/she may choose to have additional testing before or during a pregnancy to determine if the fetus has RTS. This would allow a couple to make decisions regarding a pregnancy or to prepare for the birth of a child with RTS.

Rubinstein-Taybi syndrome (RTS) is sometimes referred to as broad thumb-hallux syndrome. This is because one of the main features of this condition is a different is the shape of the thumbs and great toe. The thumb and great toe tend to be broader than would be expected and may be at an angle. Another main feature of RTS is distinctive facial features such as a different shape to the eyes and the mouth. Children with RTS may look somewhat different from other family members and may look like other children with RTS. Also, children with RTS can have intellectual disability which means extra support in school and life may be needed. Lastly, RTS can impact other parts of the body such as the eye development, heart development, kidney development but all of the features of RTS can vary between people. Not every person with RTS will have the same health issues.

A new diagnosis of a genetic disorder such as Rubinstein-Taybi syndrome (RTS) can be overwhelming for families. There is several evaluations that should be considered as the next steps. This list is not all inclusive so you will want to work closely with your doctor to be sure your child is getting care specific to his/her needs.
– Cardiology evaluation: about 1/3 of people with RTS can have heart differences
– Ophthalmology evaluation: disorders of eye development and function are common in RTS. It is important to have your child evaluated by a eye doctor to look for cataracts, coloboma, strabismus and other eye disorders.
– Renal ultrasound or Urologist evaluation: differences within the urinary tract are also seen in RTS. It may be important to have an ultrasound of the kidney and urinary tract to be sure that there is not any issues. Also boys with RTS very commonly have undescended testes. This means that the testes never drop into the scrotum. If this does not occur by itself, surgery is needed to bring the testes down.
– genetic doctor: if your child was not seen or diagnosed by a genetic specialist, it can be important to schedule an appointment to see someone. This doctor can help make sure the proper evaluations and tests are completed as well as discuss risks to other family members or future pregnancies.
– monitor growth: Short stature and poor growth is a common feature of this condition. It is important for your doctor to keep track of height and weight for your child.
– early intervention evaluation: development is typically delayed in RTS. Early intervention programs can help provide therapies which may help with developmental milestones.
– Your doctor may also recommend other evaluations such as hearing testing, imaging of the spinal canal, assesment for feeding difficulties, reflux or constipation, dental evaluation for missing, extra or abnormal teeth, evaluation for sleep apnea if you child is snoring.

Treatment of Rubinstein-Taybi syndrome involves treating the signs and symptoms of the condition. There is no cure for RTS. If a structural defect of the heart, urinary tract, spine or other area of the body is present, this may require surgery to correct the problem. Developmental milestones delays are treated by utilizing developmental therapies such as physical therapy, occupational therapy, speech therapy and special education services. The other treatment depends on the specific symptoms of your child and involves the standard treatments recommended for any child with those issues.

Rubinstein-Taybi syndrome is not a condition that is tested for by the heel stick newborn testing completed in the nursery of the hospital. This testing called "Newborn Screening" looks at a certain set number of conditions that may have significant treatment considerations within the first few days of life. RTS is not included within this testing.

However, often people with RTS have features at birth that raise suspicion for this condition. A genetics doctor may be called into the nursery or see your child within a few days to weeks after birth to evaluate for RTS. Based on the signs and symptoms, the doctor may reocmmend genetic testing for RTS at that time.

Testing for Rubinstein-Taybi syndrome involves looking at the genetic material, called DNA. This can be looked at several different ways, such as:
– Sequencing: looks at each letter of the DNA to find a single letter change that is different
– Deletion/Duplication: looks at the whole gene to see if there are segments missing or extra that causes the gene not to work properly
– Panel: this is a sequencing or deletion/duplication test that involves looking at several genes at one time. This may look at CREBBP, EP300 and other genes associated with similar features and findings as RTS.

If genetic testing is ordered for your child, be sure to ask the doctor what type of testing is being done. This will help you better understand the possible results that can be found through the testing. For more information on genetic testing, visit http://aboutgeneticcounselors.com/Genetic-Testing/What-Can-Genetic-Testing-Can-Tell-You-and-How-Can-It-Help.

There is currently no on-going research for Rubinstein-Taybi syndrome at this time. A study on medication effectiveness in the neurological aspects of RTS was recently completed. The number of studies may change over time. The best place to check for on-going research on genetic conditions is clinicaltrials.gov.

Rubinstein Taybi syndrome is commonly shortened to either RTS or RSTS. This abbreviation can also stand for other things. When reading about Rubinstein Taybi syndrome online or when discussing with a doctor, be sure that the abbreviation RTS and RSTS is actually short for Rubinstein Taybi syndrome. This is important to be sure you are reading accurate information.

Rubinstein Taybi syndrome is found equally in boys and girls. It is seen in about 1/100,000 to 125,000 babies each year.

There is not a cure for Rubinstein-Taybi syndrome (RTS). This a condition that a person will have their entire life. However, different health problems associated with RTS can be treated and improve over time. Other health problems can show up later in life. Because of this the signs and symptoms of RTS change over time. It is important that a person with RTS is followed closely throughout his/her entire life.

Birth defects such as heart malformations or differences in the development of the eyes or kidneys would present at birth. These problems may require surgery to fix the difference. Over time, a person with RTS needs to be followed for developmental problems with learning and meeting milestones such as walking and talking. Also, people with RTS are at increased risk for development of tumors that may or may not develop into cancer, as well as, increased risk for certain blood cancers. Thus, a person with RTS needs to be followed closely by a doctor who can monitor for these conditions.

Rubinstein-Taybi syndrome (RTS) can be a variable condition. This means that each person with RTS may present with different health problems. Your doctor should understand the necessary initial evaluations for proper care such as seeing a heart doctor, developmental specialist, eye doctor and get imaging tests of your kidneys. You doctor should also pay attention to your specific health problems and refer you to a specialist as needed.

There are resources online that your doctor can access to help with understanding how to manage RTS. More information can be found at this link.

People with Rubinstein-Taybi syndrome can have intellectual disability. The range of abilities varies between each person. The reported span of IQ has been from 25-79. There can be significant delays in milestones such as walking and talking. The issues with speech tend to be more significant and some children may remain nonverbal. Because every child is different, it is important to treat each child as a individual and focus on that person’s strengths and weaknesses.

Rubinstein-Taybi syndrome is referred to as being "autosomal dominantly" inherited. This means that while each person has two copies of the gene(s) for RTS, only one copy needs to be changed or knocked out to result in the signs and symptoms of RTS. Often RTS is not inherited. People with RTS may be the first person in his/her family with the diagnosis. This occurs due to a brand new change in the genetic material in just that one person, referred to as de novo.

There are rare cases of parents with normal intelligence carrying a gene change for RTS in some of the cells of their body. This is referred to as somatic mosacism. If some of the egg or sperm cells of the parent has the gene change, this could be passed along to a child without the parent being aware. The child would then have RTS. This is important because if a parent has somatic mosaicism, there is an increased chance to have another child with RTS.

When a child is diagnosed with RTS, the doctor may recommend that a parent be tested for the gene change as well. It is unlikely that a parent with carry the gene change but it is important information for recurrence risk counseling.

There are some independent foundations which are working to educate and research rare diseases such as Rubinstein-taybi syndrome. For example, the Forgotten Diseases research Foundation is aimed at focusing on conditions like Rubinstein-Taybi syndrome. Infromation about the condition as provided by the foundation can be found here: http://www.forgottendiseases.org/assets/RubinsteinTaybi.html Also, there is a link on the site where people can choose to donate to the foundation.

Also, the Special Friends Foundation is a family and support organization focused on RTS. They also have a link welcoming donations. http://specialfriends.org/

You can also consider asking your main doctor if he/she is aware of any local organizations which is focused on research of rare diseases like RTS.

Testing for Rubinstein-Taybi syndrome involves a blood sample to look at the CREBBP and/or EP300 genes. Genetic testing needs to be ordered by a doctor. If a main doctor is concerned that a baby or child may have RTS, a referral to a genetic specialist may be recommended. A genetic doctor has expertise in genetic disorders such as RTS and often works with a genetic counselor. A genetic counselor can help explain the pros and cons of testing for a genetic condition such as RTS. If testing is recommended by the doctor, your child will need to have a blood draw. The blood will be sent to a laboratory who specializes in testing for RTS. The laboratory will look for any genetic changes in the CREBBP and/or EP300 genes that would cause RTS. The results will be given to your doctor. Discuss with your doctor and genetic counselor how results of the testing will be given. Some results are discussed by telephone while others require a follow up visit. Genetic testing can take several weeks or months to be completed. Be sure to ask your doctor when to expect results from the testing.

Information about clinical trials for Rubinstein-Taybi syndrome can be found at www.clinicaltrials.gov. There is currently no on-going trials for Rubinstein-taybi; however, this may change over time.

There are certain hospitals in the United States who specialize in the diagnosis, treatment and mangement of Rubinstein-Taybi syndrome (RTS). These include:
—Childrens Hospital of Cincinnati For more information about the Rubinstein-Taybi Syndrome (RTS) Program at Cincinnati Children’s Hospital Medical Center, contact David Schor, MD, RTS Program Director at 1-800-344-2462 or 513-636-0541
–Cathy Stevens, MD, of Medical Genetics at T.C. Thompson Childrens Hospital located in Chattanooga, Tennessee. Dr. Stevens special interst is RTS and has published several articles on Rubinstein-Taybi including the RTS Blue Book for families. www.rubinstein-taybi.com/?q=node/17 . Dr. Stevens can be reached at 423-778-6112.

Other centers have comprehensive clinical genetics programs which would be able to diagnosis and manage your child’s diagnosis of RTS. Discuss with your main doctor the best center of excellence for your child.

Rubinstein-Taybi syndrome is a rare condition. The exact number of people with RTS is uncertain but it is thought that 1/100,000 to 1/125,000 babies are born with this condition each year. Both boys and girls can have RTS.

Rubinstein-taybi syndrome is a clinical diagnosis. This means that a positive genetic test is not required for a person to have the diagnosis of RTS. There is around 30% of people with RTS who have negative genetic testing. This mean that a gene change in CREBBP and EP300 was not found to be causitive. This person still has the signs and symptoms of RTS and will be followed over time by a doctor the same way a person with a positive result is followed.

Doctors may use different names when talking about Rubinstein Taybi syndrome. A doctor may refer to this condition by an abbreviation such as RTS or RSTS. A doctor may also call Rubistein taybi syndrome by the main features such as broad thumb-hallux syndrome. If you are uncertain if your doctor is talking about Rubinstein Taybi syndrome, make sure you ask the doctor to clarify.

Testing for Rubinstein-taybi syndrome is not a typical test performed during a pregnancy. However, for families in which a person is known to be affected with RTS, genetic testing can be considered on an existing pregnancy. Genetic testing during the pregnancy involves one of two invasive procedures. Chorionic villus sampling can be performed between 11-13 weeks of pregnancy and involves testing cellls from a sampling of placental tissue. Amniocentesis performed after 16 weeks of pregnancy involves testing cells from a sampling of amniotic fluid containing fetal cells. There are benefits and risks to each procedure. The best person to speak with is a maternal fetal medicine doctor and/or prenatal genetic counselor. You may want to ask your obstetrician for a referral.

Rubinstein-taybi syndrome is a genetic condition. This means that the gene change that causes the signs and symptoms of RTS is present usually in all the cells of the body. Because of this, there is no cure for RTS. People with RTS will have this condition for their whole lives. Treatment for RTS involves treating the signs and symptoms that can be seen in this condition.

The gene, CREBBP, was the first cause found in Rubinstein-Taybi syndrome (RSTS). It is responsible for abouy 50-60% of cases. Gene changes within a gene called EP300 were also found to result in Rubinstein-Taybi syndrome, but this is more rare in only 3-8% of people. There is 30% of cases that do not have a cause identified. It is likely that there is another gene or genes that has not been identified yet that causes these cases of RSTS.

Most cases of Rubinstein-taybi syndrome occur sporadically or brand new in one individual. This is not often an inherited condition. In about 70% of cases, RTS a gene change can be found to explain how the RTS happened. It is believed that the other cases of RTS occur due to gene changes that scientists and doctors do not yet know about. Genetic disorders liek RTS are not caused by anything a parent did or did not do such as medications or food choices during a pregnancy. While families may feel guilt, a parent does not have any control over the gene changes that are passed to their children.
If you would like more information on the causes of RTS, it may be import to speak with a genetic counselor. If you would like to find a genetic counselor near you, the national society of genetic counselor website has a search tool that can be found here.

Most cases of Rubinstein-Taybi syndrome (RTS) occur sporadically or brand new in one individual. This is not often an inherited condition. Typically, the chance to have a second child with RTS would be low, close to 1-2%. In rare cases, RTS can occur in mosaic form in a parent. This means the parent may be mildly affected or unaffected with RTS, but a portion of his/her cells contain the gene change for RTS. This is important because if any of the gametes (eggs or sperm) have the gene change, then it can be passed along to a child.
If you already have a child with RTS and want to know your specific risks to have another child with this condition, it may be import to speak with a genetic counselor. If you would like to find a genetic counselor near you, the national society of genetic counselor website has a search tool that can be found here.

Given the unique features of the Rubinstein-Taybi syndrome like the thumb and great toes differences and distinctive facial features, a diagnosis is often straightforward for a doctor. Sometimes a person can have more mild features so a doctor may consider other conditions that can have overlapping features such as:
— FGFR-related craniosynostosis syndromes: also can be similar thumb and toe findings. these children have a fusion of the skull bones (craniosynostosis) that is not a typical feature for RTS.
— Saethre-Chotzen syndrome: people have different facial features than is typical for RTS.
— Greig cephalopolysyndactyly syndrome: people do have differences to the fingers or toes, but this tends to be different than in RTS. This condition presents with extra fingers or toes that can be fused.
— isolated Brachydactyly D: people with this finding may have the broad thumbs similar to RTS but would lack any of the other health problems or intellectual disability associated with RTS.
— Floating Harbor syndrome: people with this condition can have similar facial features to RTS but the hand and foot findings are different.
— Keipert syndrome: people with this condition can have broad thumbs and toes but also would have hearing loss which is not common for RTS.

If your doctor is considering other conditions besides RTS, it may be important to discuss what features are similar or different about your child.

Most people with Rubinstein-Taybi syndrome are the only person affected in their family. This is because, most often, the gene change for RTS occurs randomly. There have been rare cases reported where a parent does not have the intellectual disability associated with RTS, but have the gene change. For these parents, they would have a chance to pass along the gene change in each pregnancy.

Because of this rare chance, it may be important for parents to be tested for the gene change found in their child. You may want to discuss this in more detail with your doctor or genetic counselor. This information can help provide more accurate risk information about having another child with RTS.

There are several organizations which have information regarding how people with Rubinstein-Taybi syndrome can connect with other people with RTS. To become a member of the RTS List Serve please email Janet Estes directly. [email protected]. On Rubinstein-taybi.com, there is a page devoted to ways to contact and connect with other families with RTS. The link can be found here. There is organizations for RTS in many countries around the world, including the US.

There are several organizations that are specific for people with Rubinstein-Taybi syndrome. These are listed below.
Rubinstein-taybi.com
Forgotten Disease Foundation
[link url="specialfriends.org” target=”_blank”>Special Friends Foundation
National Organization for Rare Diseases