Rubinstein-Taybi Syndrome (RSTS) is a rare genetic condition caused by a mutation or deletion in the Cyclic AMP response element-binding protein coactivator encoded by the CREBBP gene in humans, located on chromosome 16p13, or the EP300 gene located on chromosome 16. It affects an estimated 1 in 1,25,000 live births, and its characteristic features include growth delays, distinctive facial features, intellectual disability, and often angulated thumbs and toes. These patients are at increased risk of developing meningioma, other brain tumors, and leukemia. The syndrome presents with a diverse array of clinical features affecting multiple organ systems, including craniofacial abnormalities, cutaneous symptoms, cardiac defects, and developmental delays. Diagnosis typically involves molecular genetic testing alongside clinical evaluations, and management requires a multidisciplinary approach tailored to individual patient needs. Genetic counseling is essential due to the sporadic nature of RSTS, with most cases resulting from de novo mutations. The paper also discusses ongoing research into potential therapies and emphasizes the need for collaborative efforts to advance understanding, diagnosis, and management of RSTS.
Rubinstein-Taybi Syndrome (RSTS), CREBBP Gene, EP300 Gene, Genetic Etiology, Clinical Manifestations, Diagnostic Approaches, Treatment Modalities, Genetic Counseling.
Maneesha, M. S. (2024). Rubinstein - Taybi Syndrome: A Rare Genetic Disorder. Dale View's Journal of Health Sciences and Medical Research, 1(1), 19-22.