Tags: Disease.
Smith Martin Dodd syndrome is a very rare genetic disorder first described by Smith et al. in 1994. It is characterized by small eyes a diaphragmatic hernia and Tetralogy of Fallot a congenital heart defect. The only known case is of a 9-year-old boy with several congenital anomalies including a diaphragmatic hernia microphthalmia and Tetralogy of Fallot. It was found that the boy had a reciprocal translocation t(1;15)(q41;q21.2).