Rubinstein-Taybi Syndrome 1 (RSTS1)

Rubinstein-Taybi Syndrome 1, also known as rubinstein-taybi syndrome due to crebbp mutations, is related to otopalatodigital syndrome, type i and rubinstein-taybi syndrome 2, and has symptoms including constipation and seizures. An important gene associated with Rubinstein-Taybi Syndrome 1 is CREBBP (CREB Binding Protein), and among its related pathways/superpathways are Ebola virus infection in host and TGF-beta receptor signaling in skeletal dysplasias. The drugs Valproic acid and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and high palate