Rubinstein-Taybi syndrome

Definition

Rubinstein-Taybi syndrome (RTS) is a genetic disease that involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.

Alternative Names

Rubinstein syndrome, RTS

Causes

Rubinstein-Taybi syndrome is a rare condition. Most people with RTS have a defect in a gene that leads to abnormal protein substances called CREBBP and EP300.

Some patients, typically with more severe problems, are missing the gene entirely.

Most cases are sporadic (not passed down through families) and likely due to a new genetic defect that occurs while the baby grows in the womb, which was not passed on by either parent.

Symptoms

• Broadening of the thumbs and big toes
• Constipation
• Excess hair on body (hirsutism)
• Heart defects possibly requiring surgery
• Mental retardation
• Seizures
• Short stature that is noticeable after birth
• Slow development of cognitive skills
• Slow development of motor skills accompanied by low muscle tone

Other signs and symptoms may include:

• Absent or extra kidney, and other problems with kidney or bladder
• An underdeveloped bone in the midface
• Unsteady or stiff walking gait
• Downward-slanted eyes
• Low-set ears or malformed ears
• Drooping eyelid (ptosis)
• Cataracts
• Coloboma (a defect in the iris of the eye)
• Macrocephaly (excessively large head) or microcephaly (excessively small head)
• Narrow, small, or recessed mouth with crowded teeth
• Prominent or "beaked" nose
• Thick and arched eyebrows with long eyelashes
• Undescended testicle (cryptorchidism), or other testicular problems

Exams and Tests

The health care provider will perform a physical exam. Blood tests and x-rays will be done.

Genetic tests can be done to determine if the genes involved in this disease are missing or changed.

Treatment

There is no specific treatment for Rubinstein-Taybi syndrome. Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort.

Support Groups

Rubinstein-Taybi Parents Group USA -- www.rubinstein-taybi.org

Outlook (Prognosis)

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.

Possible Complications

Complications depend on what part of the body is affected. Complications may include:

• Feeding problems in infants
• Repeated ear infections and hearing loss
• Problems with the shape of the heart
• Abnormal heartbeat
• Scarring of the skin

When to Contact a Medical Professional

An appointment with a geneticist is recommended if the health care provider finds signs of Rubinstein-Taybi syndrome.

Prevention

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

References

Morelli JG. Disorders of the nails. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 662.

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