Taybi syndrome

Taybi Syndrome Taybi Syndrome, also known as Rubinstein-Taybi Syndrome (RTS), is a rare genetic disorder characterized by distinctive facial features, broad thumbs and toes, and varying degrees of intellectual disability. This condition is named after the physicians Jack Rubinstein and Hooshang Taybi, who first described it in 1963.

Clinical Features

Individuals with Taybi Syndrome often present with a combination of physical, developmental, and cognitive challenges. The most common clinical features include:

• Facial Features: Patients typically have a prominent forehead, down-slanting eyes, a beaked nose, and a small mouth with a high-arched palate.
• Skeletal Abnormalities: Broad thumbs and toes are hallmark features. Other skeletal anomalies may include short stature and scoliosis.
• Developmental Delays: Most individuals experience developmental delays and intellectual disability, which can range from mild to severe.
• Growth: Growth retardation is common, leading to short stature.
• Other Features: Additional features may include heart defects, kidney abnormalities, and increased risk of certain cancers.

Genetics

Taybi Syndrome is primarily caused by mutations in the CREBBP gene, located on chromosome 16. In some cases, mutations in the EP300 gene can also lead to a similar phenotype. These genes are involved in regulating gene expression and chromatin remodeling, which are crucial for normal development.

Diagnosis

Diagnosis of Taybi Syndrome is based on clinical evaluation and genetic testing. The presence of characteristic physical features and developmental delays often prompts genetic testing to confirm mutations in the CREBBP or EP300 genes.

Management

There is no cure for Taybi Syndrome, and management focuses on addressing the symptoms and improving quality of life. This may include:

• Early Intervention: Speech, occupational, and physical therapy can help address developmental delays.
• Medical Monitoring: Regular check-ups to monitor growth, development, and potential complications such as heart defects.
• Surgical Interventions: Surgery may be required to correct skeletal abnormalities or other physical issues.

Prognosis

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

Research and Future Directions

Ongoing research aims to better understand the genetic mechanisms underlying Taybi Syndrome and to develop targeted therapies. Advances in genetic testing and personalized medicine hold promise for improving diagnosis and management.

See Also

• Genetic Disorders
• Developmental Disabilities
• Rare Diseases
• Rubinstein, J. H., & Taybi, H. (1963). Broad thumbs and toes and facial abnormalities: A possible mental retardation syndrome. American Journal of Diseases of Children, 105(6), 588-608.
• Hennekam, R. C. (2006). Rubinstein-Taybi syndrome. European Journal of Human Genetics, 14(9), 981-985.

NIH genetic and rare disease info

• NIH info on Taybi syndrome

Taybi syndrome is a rare disease.