From the Guidelines
Rubinstein-Taybi syndrome is a rare genetic disorder characterized by distinctive facial features, broad thumbs and toes, short stature, and intellectual disability, with an increased risk of developing certain cancers, such as meningiomas and pilomatricomas, as reported in the most recent study 1.
Key Characteristics
- Distinctive facial features, including a broad nasal bridge, downward-slanting eyes, a small jaw, and a high-arched palate
- Broad thumbs and toes
- Short stature
- Intellectual disability
- Developmental delays
- Increased risk of certain cancers, such as meningiomas and pilomatricomas
Cancer Risk and Surveillance
According to the most recent study 1, there is no recommended surveillance for individuals with Rubinstein-Taybi syndrome, as the risk of cancer is relatively low. However, it is essential to be aware of the potential risks and to monitor for any new or changing symptoms.
Management and Treatment
- Physical therapy to improve mobility and strength
- Speech therapy to improve communication skills
- Educational interventions to support learning and development
- Medical management of associated health problems, such as heart defects, respiratory difficulties, and kidney abnormalities
- Regular medical follow-ups to monitor for complications and address any concerns
Importance of Early Intervention
Early intervention services are crucial to help affected individuals reach their full potential. Regular medical follow-ups and monitoring can help identify any potential issues early on, and appropriate interventions can be implemented to support the individual's overall health and well-being 1.
From the Research
Definition and Characteristics of Rubinstein Syndrome
- Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by intellectual disability, distinct facial features, distal limb anomalies, and atypical growth 2, 3, 4.
- It is caused by variants in the CREBBP or EP300 genes, which encode proteins involved in transcription regulation and histone acetylation 2, 3, 4.
Clinical Features
- Typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation are common characteristics of RTS 3.
- Delayed growth in height and weight, dysmorphic facial features, and broad thumbs and big toe are also prevalent 3.
- Brain magnetic resonance imaging (MRI) often shows dysmorphic aspects of the corpus callosum, periventricular posterior white matter hyperintensity, and other anomalies 5.
Genetic Basis and Diagnosis
- Mutations in the CREBBP and EP300 genes contribute to the development of RTS, with a detection rate of approximately 65-70% 5.
- Genetic tests are useful for diagnosis, although most RTS cases are currently diagnosed based on clinical features 3.
- The syndrome occurs at an estimated prevalence of one case per 125,000 live births 3.
Management and Therapeutic Approaches
- Healthcare for RTS patients is complex, time-consuming, and costly, with a need for standardized diagnostic criteria and follow-up care guidelines 3.
- Research into the biology of CBP and its role in memory formation and cognitive dysfunction in RTS may lead to novel therapeutic approaches targeted to CBP/CREB function 6.