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Rubinstein-Taybi syndrome

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. Defects in the genes CREBBP and EP300 are seen in some people with this condition.

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 either in the sperm or egg cells, or at the time of conception.

Symptoms

  • 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)
  • 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 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 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

Stevens CA. Rubinstein-Taybi Syndrome. 2002 Aug 30 [Updated 2009 Aug 20]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.

Updated: 9/8/2013

Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.


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