Rubinstein-Taybi syndrome

Overview

What is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome is a genetic condition that often is described as having distinctive facial features, broad thumbs and/or toes, shorter than average and learning and development differences. This condition can also affect other parts of the body such as the heart, eyes, and kidneys. The distinctive facial features can include downslanted palpebral fissures (difference in the shape of the eyes), low hanging columella (difference in the shape of the mouth) and a unique smile. The main signs and symptoms of the condition can vary between people. Not all people with Rubinstein taybi syndrome will have all of the health problems descirbed in the condition. People with this condition are also at risk for developing tumors that may or may not develop into cancer. It is important for people with this condition to be followed closely by a doctor to get the risk care.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/rubinstein-taybi-syndrome-1/overview/59802 • DATE UPDATED: 2016-10-24

References

https://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome

Stevens CA. Rubinstein-Taybi Syndrome. 2002 Aug 30 [Updated 2014 Aug 7]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1526/

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