Rapadilino Syndrome (RAPADILINOS)

Rapadilino Syndrome, also known as absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, is related to werner syndrome and inherited cancer-predisposing syndrome. An important gene associated with Rapadilino Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are Cell Cycle, Mitotic and Homology Directed Repair. Affiliated tissues include bone and skin, and related phenotypes are aplasia/hypoplasia of the radius and short stature