ROTHMUND-THOMSON SYNDROME (RTS)

A genetic disorder with numerous features affecting skin (premature aging, excess pigmentation, dilated blood vessels),eyes (juvenile cataract), nose (saddle nose), teeth (maldeveloped), skeletal system (congenital bone defects) hair (abnormal), gonads (underdevelopment) limbs (soft tissue contractures), growth (short stature), blood (anemia) and a tendency to develop a type of bone cancer (osteogenic sarcoma). The RTS gene is on chromosome 8. The syndrome is recessive so to be affected with RTS a child has to have two RTS genes, one from each parent. RTS is also called "poikiloderma atrophicans and cataract".