Santos–Mateus–Leal syndrome

Santos–Mateus–Leal syndrome
Other names	Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness.
Specialty	Medical genetics
Symptoms	Gastrointestinal, limb, kidney, and hearing abnormalities
Usual onset	Postnatal
Duration	Life-long
Prevention	none
Prognosis	Good
Frequency	very rare, only 2 cases have been described in medical literature

Santos–Mateus–Leal syndrome, also known as Hirschsprung's disease-deafness-polydactyly syndrome is a very rare autosomal recessive limb malformation which is characterized by Hirschsprung's disease, feet and hand polydactyly, unilateral renal agenesis, and congenital hearing loss. Only 2 cases have been described in medical literature.

It was first discovered by Santos et al., when they described 2 siblings of the opposite sex born to consanguineous, first-cousin parents with the symptoms mentioned above, they (Santos et al.) came to the conclusion that this case was part of a separate novel syndrome different from a previous case report which described 2 male babies with Hirschsprung's disease, polydactyly and ventricular septal defect. This disorder is inherited in an autosomal recessive manner.