Hirschsprung disease-hearing loss-polydactyly syndrome

An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.

Also known as: Santos-Mateus-Leal syndrome, Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness, Hirschsprung disease with polydactyly, renal agenesis, and deafness, Hirschsprung disease, deafness and polydactyly, Hirschsprung disease-deafness-polydactyly syndrome, Santos Mateus Leal syndrome

11 clinical trials for this condition and its sub-types.