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Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by distinctive physical features, developmental delays, and intellectual disabilities. Individuals with RTS typically exhibit broad thumbs and toes, a characteristic facial appearance with downslanting eyes, low-set ears, a beaked nose, and a wide mouth. These physical traits often become apparent in early childhood and aid in diagnosing the condition. RTS is primarily caused by mutations in the CREBBP or EP300 genes, affecting their function in regulating gene activity. While the majority of cases occur sporadically due to new mutations, RTS can also be inherited in an autosomal dominant pattern from a parent with the condition. Apart from physical characteristics, individuals with RTS often experience developmental delays, intellectual disabilities, and speech difficulties. However, the severity of symptoms can vary widely among affected individuals. Some may have mild learning difficulties, while others may face more significant challenges requiring specialized care and support. Management of Rubinstein-Taybi syndrome involves a multidisciplinary approach, addressing various aspects such as early intervention programs, speech therapy, occupational therapy, and educational support tailored to the individual's needs. Regular monitoring and support from healthcare professionals, along with family and community involvement, play crucial roles in improving the quality of life for those affected by RTS.
