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.
Rubinstein syndrome, RTS
Rubinstein-Taybi syndrome is a rare condition. Defects in the genes CREBBP and EP300 are seen in some people with this condition.
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 either in the sperm or egg cells, or at the time of conception.
- Broadening of the thumbs and big toes
- Excess hair on body (hirsutism)
- Heart defects possibly requiring surgery
Short staturethat 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 earsor malformed ears
- Drooping eyelid (
ptosis) Cataracts Coloboma(a defect in the iris of the eye) 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
Exams and Tests
The health care provider will perform a physical exam. Blood tests and x-rays may also be done.
Genetic tests can be done to determine if the genes involved in this disease are missing or changed.
There is no specific treatment for Rubinstein-Taybi syndrome. Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort.
Rubinstein-Taybi Parents Group USA —
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.
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
When to Contact a Medical Professional
An appointment with a geneticist is recommended if the health care provider finds signs of Rubinstein-Taybi syndrome.
Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.