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.

  • Alternative Names
    • Rubinstein syndrome, RTS

  • Causes
    • RTS is a rare condition. Defects in the genes CREBBP and 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 defect 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)
      • Extra fingers (polydactyly)
      • 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 RTS. Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort.

  • Support Groups
  • 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 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
    • Nussbaum RL, McInnes RR, Willard HF. Develomental genetics and birth defects. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia, PA: Elsevier; 2016:chap 14.

      Stevens CA. Rubinstein-Taybi syndrome. Gene Reviews. 2014;8. PMID: 20301699 Accessed August 1, 2015.