Hirschsprung disease-deafness-polydactyly syndrome
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 September 2023.
Newly diagnosed with
Hirschsprung disease-deafness-polydactyly syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.