Rubinstein-Taybi syndrome
Key points
- Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature, and characteristic facial features.
- Rubinstein-Taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people.
- Treatment There is no specific treatment for Rubinstein-Taybi syndrome.
- Additional resources are available from the Rubinstein-Taybi Parents Group USA.
Alternative names
Rubinstein syndrome
Definition
Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature, and characteristic facial features.
Causes, incidence, and risk factors
Rubinstein-Taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. The gene involved in RTS, which is called CREB binding protein (CREBBP), was identified in 1995.
Most patients have mutations in the gene, resulting in an abnormal CREB binding protein. About 10% of patients, typcially with more severe problems, have an outright deletion of the gene and they do not make any of the protein.
Most cases are sporadic and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if one parent passes on the defective gene, the child will be affected.
The classic feature is broad thumbs and great toes, but typically there is also short stature, unusual face, low-set ears, port-wine-stain, undescended testicles in the male, and downward slant of the eyes.
Symptoms
- broad thumbs and great toes
- slow development of both cognitive and motor skills with low muscle tone
- mental retardation
- short stature that develops after birth
- excess hair on body (hirsutism)
- about 40% of patients have heart defects with some requiring surgery
- Constipation
Signs and tests
- hypoplastic (underdeveloped) maxilla (bone in the midface), narrow palate, crowded teeth
- an unsteady or stiff walking gait
- eyes slant downward
- low-set ears or malformed ears
- drooping eyelid (ptosis)
- cataract
- coloboma (a defect in the iris of the eye)
- cryptorchidism or other testicular problems
- macrocephaly (excessively large head) or microcephaly (excessively small head)
- skeletal (limb) abnormalities including the last segment of the other fingers/toes, appearing broad on or physical examination
Written and revised by
Gerald Hurowitz, M.D.
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