Rubinstein-Taybi Syndrome Overview
Learn About Rubinstein-Taybi Syndrome
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 or 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 variant that occurs either in the sperm or egg cells, or at the time of conception.
Symptoms include:
- Broadening of the thumbs and big toes
- Constipation
- Excess hair on body (hirsutism)
- Heart defects, possibly requiring surgery
- Intellectual disability
- Seizures
- Short stature that is noticeable after birth
- Slow development of cognitive skills
- Slow development of motor skills accompanied by low muscle tone
Other signs and symptoms may include:
- Absent or extra kidney, and other problems with kidney or bladder
- An underdeveloped bone in the midface
- Unsteady or stiff walking gait
- Downward-slanted eyes
- Low-set ears or malformed ears
- Drooping eyelid (ptosis)
- Cataracts
- Coloboma (a defect in the iris of the eye)
- Microcephaly (excessively small head)
- Narrow, small, or recessed mouth with crowded teeth
- Prominent or "beaked" nose
- Thick and arched eyebrows with long eyelashes
- Undescended testicle (cryptorchidism), or other testicular problems
There is no specific treatment for RTS. However, the following treatments can be used to manage problems commonly associated with the condition.
- Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort.
- Early intervention programs and special education to address developmental disabilities.
- Referral to behavioral specialists and support groups for family members.
- Medical treatment for heart defects, hearing loss, and eye abnormalities.
- Treatment for constipation and gastroesophageal reflux (GERD).
Patricia Fergelot practices in Bordeaux, France. Ms. Fergelot is rated as an Elite expert by MediFind in the treatment of Rubinstein-Taybi Syndrome. Her top areas of expertise are Rubinstein-Taybi Syndrome, Otopalatodigital Syndrome Type 1, Periventricular Heterotopia, and Frontometaphyseal Dysplasia.
Universita Degli Studi Di Milano
Cristina Gervasini practices in Milan, Italy. Ms. Gervasini is rated as an Elite expert by MediFind in the treatment of Rubinstein-Taybi Syndrome. Her top areas of expertise are Rubinstein-Taybi Syndrome, Cornelia De Lange Syndrome, Rothmund-Thomson Syndrome, and PARC Syndrome.
Lidia Larizza practices in Milan, Italy. Ms. Larizza is rated as an Elite expert by MediFind in the treatment of Rubinstein-Taybi Syndrome. Her top areas of expertise are Rubinstein-Taybi Syndrome, KBG Syndrome, PARC Syndrome, and Cornelia De Lange Syndrome.
More information and support for people with RTS and their families can be found at:
- Special Friends Foundation -- specialfriends.org
- Rubinstein-Taybi Syndrome Children's Foundation -- www.facebook.com/RTSCF/
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:
- Feeding problems in infants
- Repeated ear infections and hearing loss
- Problems with the shape of the heart
- Abnormal heartbeat
- Scarring of the skin
An appointment with a geneticist is recommended if your provider finds signs of RTS.
Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.
Summary: Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease (AD)/age-related dementias (ARD). Participants: Participants include 120 adults with ID, their caregivers, and their coaches (up to 360 individual participants, grouped as triads), recr...
Summary: Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients. For the other part it is impossible to conclude due to the presence of variants of unknown significance (VOUS). Functional analysis are needed to bring strong argument to reclassify variants as pathogenic or benign. The mai...
Published Date: September 18, 2023
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 C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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Jones KL, Jones MC, Campo MD. Very small stature, not skeletal dysplasia. In: Jones KL, Jones MC, Campo MD, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:100-133.
Wynshaw-Boris A, Klein O. Developmental genetics and birth defects. In: Cohn RD, Scherer SW, Hamosh A, eds. Thompson & Thompson Genetics and Genomics in Medicine. 9th ed. Philadelphia, PA: Elsevier; 2024:chap 15.