Roberts-Sc Phocomelia Syndrome (RBS)

Roberts-Sc Phocomelia Syndrome, also known as roberts syndrome, is related to alpha-thalassemia and cornelia de lange syndrome 1, and has symptoms including seizures An important gene associated with Roberts-Sc Phocomelia Syndrome is ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2), and among its related pathways/superpathways are Cell Cycle, Mitotic and EML4 and NUDC in mitotic spindle formation. The drugs Hydroxyurea and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are hypertelorism and bowing of the long bones