MedlinePlus Medical Encyclopedia: Rubinstein-Taybi syndrome

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Rubinstein-Taybi syndrome

Contents of this page:
Illustrations Alternative names Definition Causes, incidence, and risk factors Symptoms Signs and tests	Treatment Support Groups Expectations (prognosis) Complications Calling your health care provider Prevention

Illustrations

Polydactyly - an infant's hand

Alternative names Return to top

Rubinstein syndrome

Definition Return to top

Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature, and characteristic facial features.

Causes, incidence, and risk factors Return to top

Rubinstein-Taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. The gene involved in RTS, which is called CREB binding protein (CREBBP), was identified in 1995.

Most patients have mutations in the gene, resulting in an abnormal CREB binding protein. About 10% of patients, typcially with more severe problems, have an outright deletion of the gene and they do not make any of the protein.

Most cases are sporadic and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if one parent passes on the defective gene, the child will be affected.

The classic feature is broad thumbs and great toes, but typically there is also short stature, unusual face, low-set ears, port-wine-stain, undescended testicles in the male, and downward slant of the eyes.

Symptoms Return to top

broad thumbs and great toes
slow development of both cognitive and motor skills with low muscle tone
mental retardation
short stature that develops after birth
excess hair on body (hirsutism)
about 40% of patients have heart defects with some requiring surgery
constipation

Signs and tests Return to top

hypoplastic (underdeveloped) maxilla (bone in the midface), narrow palate, crowded teeth
an unsteady or stiff walking gait
eyes slant downward
low-set ears or malformed ears
drooping eyelid (ptosis)
cataract
coloboma (a defect in the iris of the eye)
cryptorchidism or other testicular problems
macrocephaly (excessively large head) or microcephaly (excessively small head)
skeletal (limb) abnormalities including the last segment of the other fingers/toes, appearing broad on x-rays or physical examination
thick and arched eyebrows with long eyelashes
narrow, small, or recessed mouth with crowded teeth
prominent or "beaked" nose
absent or extra kidney, and other problems with kidney or bladder
genetic or mutation testing, including deletion testing to see if the CREBBP gene is missing

Treatment Return to top

There is no specific treatment for Rubinstein-Taybi syndrome. Symptoms such as mental retardation are treated as necessary with speech and cognitive therapy. Surgical repair of thumbs or great toes can sometimes improve grasp or relieve discomfort. Treatment may not be necessary in all cases.

Support Groups Return to top

Additional resources are available from the Rubinstein-Taybi Parents Group USA. Call 888-447-2989.

Expectations (prognosis) Return to top

The majority of children can learn to read at an elementary level. The majority have delayed motor development, but on average, they learn to walk by 2 1/2 years of age.

Complications Return to top

Complications vary depending on the symptoms that are present.
Feeding difficulties are common in infancy.
Recurrent ear infections with hearing loss can result.
Abnormal heart structures at birth and abnormal heart rhythms have been reported.
There is an increased risk for keloid formation of the skin.

Calling your health care provider Return to top

Call for an appointment with your health care provider if you child does not seem to be developing normally. An appointment with a geneticist is appropriate if the provider finds signs of Rubinstein-Taybi syndrome such as broad thumbs and toes.

Prevention Return to top

Genetic counseling is advised for parents with a family history of this disease who are planning a pregnancy.

Update Date: 9/2/2003

Updated by: A.D.A.M. editorial. Previously reviewed by Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network (2/6/2003).

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