Rubinstein-Taybi Syndrome

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Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by broad thumbs and toes, short stature, intellectual disability and feeding difficulties. Signs also include abnormal facial features such as downward slanted eyes, high-arched eyebrows, long eyelashes, low-hanging nasal septum, grimacing smile, high palate, and cusps on the talon teeth. RTS is caused by a sporadic genetic mutation that is rarely inherited. Treatments focus on symptoms, and includes monitoring growth and feeding, health evaluations, behavioral therapy and special education.

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