Rubinstein–Taybi syndrome

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Rubinstein–Taybi syndrome
Synonyms	Broad thumb-hallux syndrome
Pronounce
Specialty	Medical genetics
Symptoms	Intellectual disability, distinctive facial features, broad thumbs and toes
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Clinical diagnosis, Genetic testing
Differential diagnosis	Cornelia de Lange syndrome, Floating-Harbor syndrome
Prevention
Treatment	Supportive care, Occupational therapy, Speech therapy
Medication
Prognosis	Varies
Frequency	1 in 100,000 to 125,000
Deaths

Rubinstein–Taybi syndrome

Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals.

Signs and Symptoms

People with Rubinstein–Taybi syndrome often have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is sometimes associated with an increased risk of developing certain other types of cancers, including brain tumors and cancers of the blood, bone, or nerves.

Causes

Rubinstein–Taybi syndrome is caused by mutations in the CREBBP or EP300 gene. These genes provide instructions for making proteins that help control the activity of many other genes. The proteins produced from the CREBBP and EP300 genes, particularly the CREBBP protein, play a critical role in regulating cell growth and division and are important for normal development before birth.

Diagnosis

Diagnosis of Rubinstein–Taybi syndrome can be challenging, as the symptoms can vary significantly among individuals. Genetic testing can confirm a diagnosis.

Treatment

Treatment for Rubinstein–Taybi syndrome is symptomatic and supportive. Physical, occupational, and speech therapy may be beneficial. Special education, vocational training, and socialization opportunities can also be helpful.

See Also

• Genetic Disorders
• CREBBP
• EP300
• Leukemia
• Lymphoma

References

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External Links

• WikiMD Article

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