Although FGFR3 plays a key role in chondrogenesis, its role in the pathogenesis of cartilaginous tumors is poorly understood; indeed, although osteochondroma is observed in several members of a family with CATSHL syndrome, there have been almost no studies examining this phenotype [31]. The gene discussed is FGFR3; the disease is Camptodactyly - tall stature - scoliosis - hearing loss.