POIKILODERMA ATROPHICANS AND CATARACT

The Rothmund-Thomson syndrome (RTS), a genetic disorder with numerous features affecting skin (premature aging, excess pigmentation, dilated blood vessels),eyes ( uvenile 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.