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Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of mental retardation.
Alternative NamesRubinstein syndrome
Causes, incidence, and risk factorsRubinstein-Taybi syndrome is a rare condition, affecting about 1 in 125,000 people. Most people with RTS have a defect in a gene that leads to an abnormal CREB binding protein (CREBBP).
About 10% of patients, typically with more severe problems, are missing the gene entirely and do not make any CREBBP.
Most cases are sporadic (not inherited) and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if just one parent passes on the defective gene, the child will be affected.
Symptoms- Broadening of the thumbs and big toes
- Constipation
- Excess hair on body (hirsutism)
- Heart defects possibly requiring surgery (about 30% of patients)
- Mental retardation
- Seizures
- Short staturethat is noticeable after birth
- Slow development of cognitive skills
- Slow development of motor skills accompanied by low muscle tone
Examination and testing may reveal:
- Absent or extra kidney, and other problems with kidney or bladder
- An underdeveloped bone in the midface
- Narrow palate
- Crowded teeth
- 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)
- Macrocephaly(excessively large head) or microcephaly (excessively small head)
- Narrow, small, or recessed mouth with crowded teeth
- Prominent or "beaked" nose
- Skeletal (limb) abnormalities including the last segment of the other fingers and toes, appearing broad on x-rays or physical examination
- Thick and arched eyebrows with long eyelashes
- Undescended testicle (cryptorchidism), or other testicular problems
Genetic tests can be done to determine if the CREBBP gene is missing.
TreatmentThere is no specific treatment for Rubinstein-Taybi syndrome. Symptoms such as mental retardation are treated as necessary with speech and cognitive therapy. Surgical repair of thumbs or great toes can sometimes improve grasp or relieve discomfort. Treatment may not be necessary in all cases.
Support GroupsRubinstein-Taybi Parents Group USA -- www.rubinstein-taybi.org
Expectations (prognosis)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.
ComplicationsComplications depend on what the symptoms are. Feeding difficulties are common in infancy. Recurrent ear infections with hearing loss can result.
There may be abnormal heart structures at birth and abnormal heart rhythms.
There is an increased risk for keloid formation of the skin.
Calling your health care providerCall for an appointment with your health care provider if you child does not seem to be developing normally. An appointment with a geneticist is appropriate if the provider finds signs of Rubinstein-Taybi syndrome such as broad thumbs and toes.
PreventionGenetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.
ReferencesMorelli JG. Disorders of the Nails. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 662.
Wiki User
∙ 13y ago
Wiki User
∙ 12y agoRubinstein-Taybi syndrome (RTS) is a genetic disease that involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.
Alternative NamesRubinstein syndrome, RTS
Causes, incidence, and risk factorsRubinstein-Taybi syndrome is a rare condition. Most people with RTS have a defect in a gene that leads to abnormal protein substances called CREBBP and EP300.
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 while the baby grows in the womb, which was not passed on by either parent.
Symptoms- Broadening of the thumbs and big toes
- Constipation
- Excess hair on body (hirsutism)
- Heart defects possibly requiring surgery
- Mental retardation
- Seizures
- 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 ears or 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
The health care provider will perform a physical exam. Blood tests and x-rays will be done.
Genetic tests can be done to determine if the genes involved in this disease are missing or changed.
TreatmentThere 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.
Support GroupsRubinstein-Taybi Parents Group USA -- www.rubinstein-taybi.org
Expectations (prognosis)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.
ComplicationsComplications 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 heart beat
- Scarring of the skin
An appointment with a geneticist is recommended if the health care provider finds signs of Rubinstein-Taybi syndrome.
PreventionGenetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.
ReferencesMorelli JG. Disorders of the Nails. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 662.
Reviewed ByReview Date: 08/04/2011
Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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