Rubinstein-taybi syndrome

Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder characterized by distinctive facial features, broad thumbs and toes, short stature, and varying degrees of intellectual disability. It was first described by Dr. Jack Rubinstein and Dr. Hooshang Taybi in 1963.

Etiology

RTS is primarily caused by mutations in the CREBBP gene, which is located on chromosome 16. In some cases, mutations in the EP300 gene on chromosome 22 have also been implicated. These genes are responsible for encoding proteins that regulate gene expression by modifying chromatin structure.

Clinical Features

Individuals with Rubinstein-Taybi Syndrome often present with a combination of the following features:

• Facial Features: Distinctive facial characteristics include a beaked nose, downward slanting eyes, and a prominent forehead.
• Skeletal Abnormalities: Broad thumbs and toes are hallmark features. Other skeletal anomalies may include short stature and scoliosis.
• Intellectual Disability: Most individuals with RTS have mild to moderate intellectual disability.
• Growth Delays: Affected individuals often experience growth delays, resulting in short stature.
• Other Features: Additional features may include heart defects, kidney abnormalities, and increased risk of certain cancers.

Diagnosis

Diagnosis of Rubinstein-Taybi Syndrome is based on clinical evaluation and genetic testing. The presence of characteristic physical features, along with genetic testing confirming mutations in the CREBBP or EP300 genes, can confirm the diagnosis.

Management

There is no cure for RTS, and management is primarily supportive and symptomatic. Treatment may involve:

• Early Intervention: Early developmental intervention and special education programs can help maximize the potential of affected individuals.
• Surgical Interventions: Surgery may be required to correct skeletal abnormalities or congenital heart defects.
• Regular Monitoring: Regular follow-up with a multidisciplinary team is essential to monitor growth, development, and the emergence of any complications.

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.

Also see

• Genetic Disorders
• Intellectual Disability
• Congenital Heart Defects
• Chromatin Remodeling