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Rubinstein-Taybi Syndrome
Tuesday, 12 July 2005
Tuesday, 12 July 2005

What

Rubinstein-Taybi syndrome (RSTS) is a genetic disorder that is characterized by certain facial features, broad thumbs and first toes, and developmental delay.

Who

Rubinstein-Taybi syndrome occurs in all ethnicities and equally affects both males and females. RSTS occurs in about 1 in 100,000 to 1 in 125,000 births.

Signs and Symptoms

There are many characteristics associated with RSTS. Not every individual has all of the following characteristics. The head is small for age. There are certain facial features such as eyes that slant downward and are spaced widely apart. The nose may resemble that of a parrot’s “beak”. Often, the thumbs and first toes are broad. Babies with RSTS are born with a normal length but as they grow older, their growth slows, and they become short. The average adult male height is about 5 feet, and the average female adult height is about 4 feet 10 inches. They may become obese during childhood and adolescence. Males usually have testes that are not in the scrotum (undescended testicles). They can have heart or kidney problems. Children have developmental delay in all areas of functioning and develop mild to severe mental retardation with IQs that range from 25-79. (The average IQ of an unaffected person is 100).

Possible Causes

Rubinstein-Taybi is inherited in an autosomal dominant manner. Usually, however, the child is the first affected person in the family. Thus, parents of a child with RSTS have less than a 1% risk of having a second child with the same disorder. Some cases of RSTS are caused by changes (mutations) in a gene called CREBBP. This gene is located on chromosome 16. Many cases of RSTS do not have a known cause.

Diagnosis

RSTS is diagnosed by a geneticist based on the above signs and symptoms. X-rays can be taken to look for any abnormal bones of the hands, feet, or spine. An electrocardiogram (EKG) or echocardiogram (heart ultrasound) can show heart problems. An ultrasound of the kidneys can show kidney problems. Genetic testing for the CREBBP gene can help confirm the diagnosis; however, only 10% of children will have an abnormality.

Treatment

There is no cure for Rubinstein-Taybi syndrome but the child’s symptoms should be treated appropriately. Enrollment in a developmental center early in infancy is important to help the child learn developmental skills. Speech therapy is helpful for developing language and communication skills. When the child starts school, special education programs should be tailored to meet the child’s learning needs. Children with bone problems may benefit from physical and occupational therapy. They should have their vision and hearing checked because these are also important for learning. Nutritional counseling can assist in weight management. If the child has heartburn (reflux) or constipation, this should be treated. They should visit a dentist regularly because their teeth are often crowded in their small mouths. Any heart or kidney problems should also be treated by a cardiologist or nephrologist, respectively. If the child snores or does not sleep well, they should be checked for sleep apnea and appropriately treated. If the child develops behavior problems, they should receive therapy by a behavior specialist or child psychiatrist.

Prognosis

The prognosis for RSTS varies from child to child depending on the severity of their symptoms. The symptoms that cause the most problems are difficulties with the heart, lung infections, and feeding. Most individuals with RSTS will need life-long support. Those with milder limitations and mild developmental delays can function well and hold jobs.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Rubinstein-Taybi Syndrome
A great website devoted to families affected by RSTS. There is information about the syndrome as well as links to many local associations around the world.

Special Friends Foundation
A well organized site dedicated to families affected by RSTS. It provides help for those just beginning their journey to those who need detailed information.

National Library of Medicine
A nice website with a summary of information about RSTS.

Google Search for Rubinstein-Taybi Syndrome

References and Sources

Gene Reviews: Rubinstein-Taybi Syndrome. www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=5Jr6E88kR8q5i&gry=&fcn=y&fw=bAfR&filename=/profiles/rsts/index.html OMIM: Rubinstein-Taybi Syndrome. McKusick, V. www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180849 eMedicine. www.emedicine.com/derm/topic711.htm