syndromic disease Hirschsprung disease-hearing loss-polydactyly syndrome https://github.com/monarch-initiative/mondo/issues/551 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/hirschsprung_disease_with_polydactyly_renal_agenesis_and_deafness Santos Mateus Leal syndrome MESH:C565518 Santos-Mateus-Leal syndrome GARD:0000157 Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness Hirschsprung disease with polydactyly, renal agenesis, and deafness Orphanet:2155 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. Hirschsprung disease, deafness and polydactyly UMLS:C1856112 Hirschsprung disease-deafness-polydactyly syndrome OMIM:235740 MONDO:0009342 SCTID:721221000 MEDGEN:341066 multiple congenital anomalies/dysmorphic syndrome without intellectual disability intestinal motility disease