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Rubinstein-Taybi Syndrome

Distinctive facial features evolve with growth

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Updated August 21, 2005

Rubinstein-Taybi syndrome is characterized by distinctive facial features, mental retardation, and broad great toes and thumbs. Research has found a genetic error on chromosome 16 in about 20% of individuals with the syndrome.

Rubinstein-Taybi syndrome affects both males and females of all ethnic backgrounds. The exact prevalence of the syndrome is not known, and estimates of its frequency vary widely.

Symptoms
The symptoms of Rubinstein-Taybi syndrome may vary among individuals. Common symptoms may include:

  • small upper jaw with narrow palate
  • prominent beaked nose
  • down-slanting eyes, may be wide-set
  • low-set and/or malformed ears
  • strabismus, cataracts, tear duct obstruction
  • broad great toes and thumbs
  • mental retardation
  • speech difficulty
  • low muscle tone
  • growth deficiency
  • undescended testicles in males
  • excess hair growth (hirsutism).
Some individuals may also have congenital heart defects, difficulty swallowing, and dental problems.

Diagnosis
Rubinstein-Taybi syndrome is usually diagnosed based on the physical features, such as broad great toes and thumbs. These features may be evident at birth and suggest the diagnosis. The distinctive facial features may not be distinct in infancy, but may instead evolve over time as the child grows. If Rubinstein-Taybi syndrome is suspected, genetic testing can be done to rule out other genetic disorders with similar symptoms.

Treatment
Treatment is based on the needs of the individual with Rubinstein-Taybi syndrome. Children with Rubinstein-Taybi syndrome commonly need medical care for severe constipation, ear and upper respiratory infections, and dental problems. Physical and occupational therapy can help growing children develop physical skills. Speech therapy is essential to help children with feeding problems, and to help them learn to communicate. Special education can help individuals reach their full developmental potentials.

Information for this article was taken from:
- Rubinstein-Taybi.org
- Saitta, S. C., & Krantz, I. (2003). Rubinstein-Taybi syndrome. eMedicine, accessed at http://www.emedicine.com/ped/topic2026.htm

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