Rubinstein-Taybi syndrome
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
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Intellectual disability
Intellectual disability
Intellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...
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Short stature that is noticeable after birth
Short stature
A child who has short stature is much shorter than children who are the same age and sex. Your health care provider will go over your child's growth ...
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- 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
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Low-set ears or malformed ears
Low-set ears
Low-set ears and pinna abnormalities refer to an abnormal shape or position of the outer ear (pinna or auricle).
Read Article Now Book Mark Article - Drooping eyelid (ptosis)
Ptosis
Eyelid drooping is excess sagging of the upper eyelid. The edge of the upper eyelid may be lower than it should be (ptosis) or there may be excess b...
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Coloboma (a defect in the iris of the eye)
Coloboma
Coloboma of the iris is a hole or defect of the iris of the eye. Most colobomas are present since birth (congenital).
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Microcephaly (excessively small head)
Microcephaly
Microcephaly is a condition in which a person's head size is much smaller than that of others of the same age and sex. Head size is measured as the ...
Read Article Now Book Mark Article - 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
Cryptorchidism
Undescended testicle occurs when one or both testicles fail to move into the scrotum before birth.
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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.
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.
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.
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