Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome

Description, Causes and Risk Factors:

Abbreviation: RTS.

Alternative Name: Broad thumb-hallux syndrome.

Rubinstein-Taybi syndrome is a rare congenital syndrome comprised of mental and growth retardation, broad thumbs and large toes, and an unusual face. The classical facial appearance is well-established, striking and easy to recognize. It includes puffiness, down slanting of the palpebral fissures, epicanthal folds, and a prominent and/or beaked nose with nasal septum sometimes extending below the alae, and a narrow, high arched palate. They are frequently microcephalic. The ears are low set and often malformed. There is abundant dark hair, with low anterior and posterior hairlines. Eyebrows are heavy and eyelashes long. When typical features are present, newborns with RTS can be readily recognized.

Incidence estimated at 1 in 100,000 to 125,000 live born infants.

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.

Recent studies have found small deletions at 16p13.3 in about 25% of cases. Other causes may include microdeletion of chromosome 16p13.3, CREB-binding protein (cAMP Response Element Binding Protein) mutations (CBP, 16p13.3) and E1A-binding protein mutations (EP300, 22q13). CBP and EP300 show a very high degree of homology and both play important roles as global transcriptional coactivators. The exact pathogenesis of the syndrome remains uncertain.


Some symptoms may include:

    Expansion of the thumb and big toes.

  • Short stature seen after birth.

  • Excess body hair (hirsutism).

  • Constipation.

  • Heart defects.

  • Ability slow skills.

People with Rubinstein-Taybi syndrome have distinctive physical characteristics, including shortstature, broad thumbs and big toes, widely spaced eyes, a beaked nose, small jaw, and low set ears. Each personhas a unique combination of characteristics.

Behavioral characteristics may include: A short attention span, impulsivity, obsessive-compulsive ormood disorders, and withdrawal. People with Rubinstein-Taybi syndrome also have some level of cognitivedelay that differs with each person.


The diagnosis is in essence based on clinical examination. A cytogenetic or molecular abnormality can be detected in about 55% of patients. The syndrome can sometimes be difficult to differentiate from Saethre-Chotzen syndrome and Cornelia de Lange syndrome. The recurrence risk for parents of an index case is low (0.1%).

Genetic tests can be done to determine if the CREBBP (cAMP Response Element Binding Protein) gene is missing.

Additional studies may include radiographies of hands and feet to check for (partial) duplications of the first rays. Checking for a microdeletion at chromosome 16p13.3 using a series of five probes (RT100, RT102, RT191, RT203, and RT166) and molecular analysis for mutations in CBP and p300 are helpful when an abnormality will be found. However, as in total by cytogenetic and molecular studies an abnormality can be detected in 55% of cases only, a negative result does not exclude the diagnosis.


There is no specific treatment for the RTS. Symptoms such as mental retardation are treated as needed with cognitive therapy. Children with Rubinstein-Taybi syndrome commonly need medical care for severe constipation, ear and upper respiratory infections, and dental problems. Physical and occupational therapy can help growing children develop physical skills. Speech therapy is essential to help children with feeding problems, and to help them learn to communicate. Special education can help individuals reach their full developmental potentials.

Surgery to repair the thumb or big toe can sometimes improve the ability to hold or relieve the symptoms of the patient.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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