Rubinstein-taybi syndrome
Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome (pronunciation: roo-bin-stine 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 pediatricians Jack Rubinstein and Hooshang Taybi, who first described it in 1963.
Definition
Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder that affects many organ systems. RTS is characterized by intellectual disability, distinctive facial features, broad thumbs and toes, and often, short stature.
Symptoms
Symptoms of Rubinstein-Taybi Syndrome may vary but often include:
- Broad thumbs and toes
- Short stature
- Distinctive facial features (including downslanting palpebral fissures, a prominent nose with the nasal septum extending below the alae, a grimacing smile, and a broad or beaked thumb)
- Varying degrees of intellectual disability
- Microcephaly (small head size)
- Cryptorchidism (undescended testicles) in males
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. Mutations in either of these genes disrupt normal development before and after birth.
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, speech therapy, and other medical, dental, or orthopedic interventions as needed.
Related Terms
External links
- Medical encyclopedia article on Rubinstein-taybi syndrome
- Wikipedia's article - Rubinstein-taybi syndrome
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