Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (pronounced roo-BIN-styne TAY-bee sin-drome) is a genetic disorder characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.

Etymology

The syndrome is named after American pediatrician Jack Rubinstein and radiologist Hooshang Taybi, who first described it in 1963.

Characteristics

People with Rubinstein-Taybi syndrome often have distinctive facial features that are described as "down-slanting" palpebral fissures, a low-hanging columella, and a beaked nose. They also have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma.

Causes

Rubinstein-Taybi syndrome is caused by mutations in the CREBBP or EP300 gene. However, in some cases, the cause of the syndrome is unknown.

Diagnosis

Diagnosis of Rubinstein-Taybi syndrome is based on clinical features. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Rubinstein-Taybi syndrome is symptomatic and supportive. This may include physical therapy, special education, and surgeries to correct skeletal abnormalities.

Related Terms

• Genetic disorder
• CREBBP
• EP300
• Leukemia
• Lymphoma

External links

• Medical encyclopedia article on Rubinstein-Taybi syndrome
• Wikipedia's article - Rubinstein-Taybi syndrome

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