Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness

Santos et al. (1988) described a brother and sister, offspring of first-cousin parents, with a syndrome of Hirschsprung disease, polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness. Santos et al. (1988) thought this was different from the disorder in 2 male infants with Hirschsprung disease, polydactyly, and ventricular septal defect (235750).