Maffucci Syndrome Watchlist (log in to enable) Retrieved 2021-01-23 Source Orphanet Trials — Genes IDH1, IDH2, PTPN11, OPN1SW, EP300, NPM1, TP53, CHEK2 Drugs — Interested in hearing about new therapies? Registered! Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.