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Rubinstein-Taybi Syndrome
Alternate 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.
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Overview, Causes, & 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.
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• Definition
• Overview, Causes, & Risk Factors
• Symptoms & Signs
• Prevention
• Diagnosis & Tests
• Treatment
• Prognosis
• Complications
• Support Groups
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
• Cataract
• Mental Retardation
• Ptosis
• Undescended Testicle
Other Topics
• Coloboma of the Iris
• Eyelid Drooping
• Increased Head Circumference
• Iris
• Microcephaly
• Palpebral Slant - Eye
• Pinna Abnormalities and Low-Set Ears
• Short Stature
• Skeletal Limb Abnormalities
Review Date : 9/2/2003
Reviewed By : A.D.A.M. editorial. Previously reviewed by Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network (2/6/2003).
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