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Rubinstein-Taybi syndrome

Definition

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

Causes

RTS is a rare condition. Variations in the genes CREBBP or EP300 are seen in some people with this condition.

Some people are missing the gene entirely. This is more typical in people with more severe problems.

Most cases are sporadic (not passed down through families). They are likely due to a new genetic variant that occurs either in the sperm or egg cells, or at the time of conception.

Symptoms

Symptoms include:

• Broadening of the thumbs and big toes

• Constipation

• Excess hair on body (hirsutism)

• Heart defects, possibly requiring surgery

• Intellectual disability

• 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)

• 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

Your health care provider will perform a physical exam. Blood tests and x-rays may also 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 RTS. However, the following treatments can be used to manage problems commonly associated with the condition.

• Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort.

• Early intervention programs and special education to address developmental disabilities.

• Referral to behavioral specialists and support groups for family members.

• Medical treatment for heart defects, hearing loss, and eye abnormalities.

• Treatment for constipation and gastroesophageal reflux (GERD).

Support Groups

More information and support for people with RTS and their families can be found at:

• Special Friends Foundation -- specialfriends.org

• Rubinstein-Taybi Syndrome Children's Foundation -- www.facebook.com/RTSCF/

Outlook (Prognosis)

The majority of children can learn to read at an elementary level. The majority of children 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 your provider finds signs of RTS.

Prevention

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

References

Burkardt DD, Graham JM. Abnormal body size and proportion. In: Pyeritz RE, Korf BR, Grody WW, eds. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications. 7th ed. Cambridge, MA: Elsevier Academic Press; 2019:chap 4.

Jones KL, Jones MC, Campo MD. Very small stature, not skeletal dysplasia. In: Jones KL, Jones MC, Campo MD, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:100-133.

Wynshaw-Boris A, Klein O. Developmental genetics and birth defects. In: Cohn RD, Scherer SW, Hamosh A, eds. Thompson & Thompson Genetics and Genomics in Medicine. 9th ed. Philadelphia, PA: Elsevier; 2024:chap 15.

Review Date: 9/18/2023

Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.