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Rubinstein-Taybi syndrome.

G Baxter1, J Beer

  • 1Northcentral Kansas Special Educational Cooperative.

Psychological Reports
|April 1, 1992
PubMed
Summary
This summary is machine-generated.

Rubinstein-Taybi Syndrome (RTS) is a genetic disorder characterized by moderate intellectual disability. While its exact cause remains unknown, RTS is not typically hereditary, though recurrence risks vary.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Science

Background:

  • Rubinstein-Taybi Syndrome (RTS) was first identified in 1957 and later distinguished in 1963.
  • The etiology of RTS is currently unknown, with potential genetic origins under investigation.
  • No consistent chromosomal abnormalities are associated with RTS, and it is not generally considered hereditary.

Observation:

  • RTS affects males and females equally and is not detectable before birth.
  • The syndrome was initially believed to be rare, but increasing case reports suggest a higher prevalence.
  • Estimated occurrence is approximately 1 in 300,000 births, with over 400 cases reported globally.

Findings:

  • The genetic basis of Rubinstein-Taybi Syndrome is still under investigation.

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  • Recurrence risks for siblings are low (approx. 0.1%), but can be as high as 50% for offspring of affected individuals.
  • RTS is characterized by moderate intellectual disability and other distinct features.

    • Implications:

    • Improved diagnostic criteria have led to increased identification of RTS cases.
    • Further research into the genetic causes of RTS is crucial for understanding its pathogenesis.
    • Understanding the prevalence and recurrence risks aids in genetic counseling and family planning for affected individuals.