Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS), also known as Broad Thumb-Hallux syndrome, is a rare genetic disorder characterized by distinctive facial features, broad thumbs and toes, short stature, and varying degrees of intellectual disability. The syndrome is named after Jack Rubinstein and Hooshang Taybi, who first described it in 1963.

Signs and Symptoms

Individuals with Rubinstein-Taybi syndrome typically present with:

• Distinctive facial features, including a beaked nose, downward slanting eyes, and a small mouth.
• Broad thumbs and toes.
• Short stature.
• Intellectual disability, which can range from mild to severe.
• Eye abnormalities, such as strabismus and ptosis.
• Heart defects.
• Kidney anomalies.
• Increased risk of certain types of tumors.

Genetics

Rubinstein-Taybi syndrome is most commonly caused by mutations in the CREBBP gene located on chromosome 16p13.3. In some cases, mutations in the EP300 gene on chromosome 22q13.2 are responsible. These genes are involved in regulating cell growth and division, and their mutations lead to the developmental abnormalities seen in RTS.

Diagnosis

Diagnosis of Rubinstein-Taybi syndrome is based on clinical features and can be confirmed by genetic testing to identify mutations in the CREBBP or EP300 genes. Prenatal diagnosis is possible if there is a known family history of the syndrome.

Management

There is no cure for Rubinstein-Taybi syndrome, and treatment is symptomatic and supportive. Management may include:

• Early intervention programs and special education to address developmental delays.
• Surgical correction of congenital anomalies, such as heart defects and eye abnormalities.
• Regular monitoring for potential complications, including tumors and kidney issues.
• Physical, occupational, and speech therapy to improve functional abilities.

Prognosis

The prognosis for individuals with Rubinstein-Taybi syndrome varies depending on the severity of symptoms and associated complications. With appropriate medical care and support, many individuals can lead fulfilling lives.

Related Pages

• Genetic disorder
• Intellectual disability
• Congenital heart defect
• Strabismus
• Ptosis (eyelid)
• Chromosome 16
• Chromosome 22

See Also

• Jack Rubinstein
• Hooshang Taybi
• CREBBP
• EP300