Rubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.
Rubinstein syndrome, RTS
RTS is a rare condition. Variations in the genes CREBBP and EP300 are seen in some people with this condition.
Some people are missing the gene entirely. This is more typical in people with more severe problems.
Most cases are sporadic (not passed down through families). They are likely due to a new genetic defect that occurs either in the sperm or egg cells, or at the time of conception.
Symptoms include:
Other signs and symptoms may include:
There is no specific treatment for RTS. However, the following treatments can be used to manage problems commonly associated with the condition.
Cristina Gervasini practices in Milan, Italy. Gervasini is rated as an Elite expert by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 16 other conditions, according to our data. Her top areas of expertise are Rubinstein-Taybi Syndrome, Cornelia De Lange Syndrome, Otopalatodigital Syndrome Type 1, and PARC Syndrome.
Lidia Larizza practices in Milan, Italy. Larizza is rated as an Elite expert by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 23 other conditions, according to our data. Her top areas of expertise are Rubinstein-Taybi Syndrome, PARC Syndrome, KBG Syndrome, and Otopalatodigital Syndrome Type 1.
Benoit Arveiler practices in Bordeaux, France. Arveiler is rated as an Elite expert by MediFind in the treatment of Rubinstein-Taybi Syndrome. He is also highly rated in 34 other conditions, according to our data. His top areas of expertise are Albinism, Rubinstein-Taybi Syndrome, Oculocutaneous Albinism, and Oculocutaneous Albinism Type 1.
Special Friends Foundation -- specialfriends.org
The majority of children can learn to read at an elementary level. The majority of children have delayed motor development, but on average, they learn to walk by 2 1/2 years of age.
Complications depend on what part of the body is affected. Complications may include:
An appointment with a geneticist is recommended if the provider finds signs of RTS.
Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.
Summary: Rubinstein-Taybi syndrome (RSTS) is a rare and severe congenital developmental disorder characterized by congenital anomalies and intellectual disability with a long term memory deficit. The main challenge is to improve the intellectual and memory efficiency of these patients. CREBBP and EP300 are the two genes known to cause RSTS. Both paralogs play a major role in chromatin remodeling and encode...
Published Date: July 30, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Burkardt DD, Graham JM. Abnormal body size and proportion. In: Pyeritz RE, Korf BR, Grody WW, eds. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications. 7th ed. Cambridge, MA: Elsevier Academic Press; 2019:chap 4.
Nussbaum RL, McInnes RR, Willard HF. Developmental genetics and birth defects. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia, PA: Elsevier; 2016:chap 14.
Stevens CA. Rubinstein-Taybi syndrome. Gene Reviews [Internet]. 2019;8. PMID: 20301699 pubmed.ncbi.nlm.nih.gov/20301699/. Updated August 22, 2019. Accessed October 29, 2021.