Rubinstein-Taybi syndrome: MedlinePlus Medical Encyclopedia

P 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.

T Causes
P RTS is a rare condition. Defects in the genes CREBBP and EP300 are seen in some people with this condition.
P Some people are missing the gene entirely. This is more typical in people with more severe problems.
P 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.

T Symptoms
P 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
P 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)
- Extra fingers (polydactyly)
- Macrocephaly (excessively large head) or 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

T Exams and Tests
P The health care provider will perform a physical exam. Blood tests and x-rays may also be done.
P Genetic tests can be done to determine if the genes involved in this disease are missing or changed.

T Treatment
P There is no specific treatment for RTS. Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort.

T Support Groups
P Rubinstein-Taybi Parents Group USA: www.rubinstein-taybi.com

T Outlook (Prognosis)
P The majority of children can learn to read at an elementary level. The majority have delayed motor development, but on average, they learn to walk by 2 1/2 years of age.

T Possible Complications
P 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

T When to Contact a Medical Professional
P An appointment with a geneticist is recommended if the provider finds signs of RTS.

T Prevention
P Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.

T Alternative Names
P Rubinstein syndrome, RTS

T References
P Nussbaum RL, McInnes RR, Willard HF. Develomental 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.
P Stevens CA. Rubinstein-Taybi syndrome. Gene Reviews. 2014;8. PMID: 20301699 www.ncbi.nlm.nih.gov/pubmed/20301699. Accessed August 1, 2015.

T Review Date 8/1/2015
P Updated by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

