From the Research
Rubens syndrome, also known as Rubens-Taybi syndrome or RTS, is a rare genetic disorder that requires a comprehensive management approach to improve morbidity, mortality, and quality of life, as evident from the most recent study in 2021 1. The disorder is characterized by distinctive facial features, broad thumbs and toes, short stature, and intellectual disability, caused by mutations in the CREBBP or EP300 genes, which play important roles in regulating gene expression and cell growth. There is no cure for Rubens syndrome, so treatment focuses on managing symptoms and providing supportive care. This typically includes:
- Early intervention services
- Physical therapy to improve motor skills
- Speech therapy for communication difficulties
- Special education programs tailored to the individual's learning needs Medical management may involve treating associated health issues such as heart defects, respiratory problems, or feeding difficulties. Regular monitoring by a multidisciplinary healthcare team is recommended, including:
- Cardiology evaluations
- Ophthalmology evaluations
- Orthopedic evaluations Genetic counseling is also important for affected families to understand inheritance patterns and recurrence risks, as highlighted in a study on the journey to receiving a diagnosis for rare genetic disease 2. Despite developmental challenges, many individuals with Rubens syndrome have pleasant, sociable personalities and can achieve meaningful independence with appropriate support, as noted in a review of the clinical features and genetic basis of RSTS 3. The most recent study in 2021 provides the highest quality evidence for the management of Rubens syndrome, and its findings should be prioritized in clinical practice 1.