Hirschsprung disease-deafness-polydactyly syndrome

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Synonyms: Hirschsprung disease-hearing loss-polydactyly syndrome | Santos-Mateus-Leal syndrome

Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association described in only two siblings to date 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 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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