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Rubinstein-Taybi syndrome - Overview

Alternative Names

Rubinstein syndrome, RTS

Definition of Rubinstein-Taybi syndrome:

Rubinstein-Taybi syndrome (RTS) is a genetic disease that involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.

Causes, incidence, and risk factors:

Rubinstein-Taybi syndrome is a rare condition. Most people with RTS have a defect in a gene that leads to abnormal protein substances called CREBBP and EP300.

Some patients, typically with more severe problems, are missing the gene entirely.

Most cases are sporadic (not passed down through families) and likely due to a new genetic defect that occurs while the baby grows in the womb, which was not passed on by either parent.

Polydactyly - an infant's hand

Reviewed last on: 8/4/2011
Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Morelli JG. Disorders of the Nails. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 662.

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