Hirschsprung disease-hearing loss-polydactyly syndrome
Findings
No curated finding names Hirschsprung disease-hearing loss-polydactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009342), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aganglionic megacolonHPOHP:0002251
- Very frequent (80% to 99% of cases)
- Foot polydactylyHPOHP:0001829
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Postaxial hand polydactylyHPOHP:0001162
- Frequent (30% to 79% of cases)
- Renal agenesisHPOHP:0000104
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairment
Where it sits
Other names
1 name
Resolves to: Hirschsprung disease-hearing loss-polydactyly syndrome
- Also called
- Santos-Mateus-Leal syndrome