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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.
Features include: Hearing loss (hearing impairment), Unilateral renal agenesis, Hand polydactyly, and Aganglionic megacolon and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 1 | Hearing loss (hearing impairment) |
Kidneys and urinary system |
Biomarker and diagnostic research for Hirschsprung disease-hearing loss-polydactyly syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Hirschsprung disease-hearing loss-polydactyly syndrome.
138 publications have been identified in PubMed for Hirschsprung disease-hearing loss-polydactyly syndrome. Research spans Review / Meta-Analysis (65%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (8%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 90 | 65% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:26 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Hirschsprung disease-hearing loss-polydactyly syndrome
1 |
Unilateral renal agenesis |
Arms and legs | 1 | Hand polydactyly |
Laboratory research |
18 |
13% |
Disease patterns and progression | 11 | 8% |
Patient case studies | 8 | 6% |
Testing and diagnosis research | 5 | 4% |
Other research | 4 | 3% |
Clinical study results | 2 | 1% |
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Clinical Trial Publication]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Ferri C (2026). [PMID: 41798958](https://pubmed.ncbi.nlm.nih.gov/41798958/). *Front Immunol*. [Review / Meta-Analysis]
Gąsiorowska J (2026). [PMID: 42023627](https://pubmed.ncbi.nlm.nih.gov/42023627/). *Pediatr Endocrinol Diabetes Metab*. [Review / Meta-Analysis]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Current opinion in clinical nutrition and metabolic care*. [Review / Meta-Analysis]
Kröll-Hermi A (2025). [PMID: 41260215](https://pubmed.ncbi.nlm.nih.gov/41260215/). *Am J Hum Genet*. [Basic Science / Preclinical]
Sánchez-Camacho A (2025). [PMID: 40406130](https://pubmed.ncbi.nlm.nih.gov/40406130/). *Front Immunol*. [Review / Meta-Analysis]
Sullivan MM (2025). [PMID: 40153327](https://pubmed.ncbi.nlm.nih.gov/40153327/). *Clin Exp Rheumatol*. [Review / Meta-Analysis]
Brokke KE (2025). [PMID: 40634186](https://pubmed.ncbi.nlm.nih.gov/40634186/). *Br J Anaesth*. [Review / Meta-Analysis]
AI-curated news mentioning Hirschsprung disease-hearing loss-polydactyly syndrome
Updated Sep 4, 2026
A new study explores CYP4F22-related autosomal recessive congenital ichthyosis, highlighting its association with Hirschsprung disease and Bartter-like renal manifestations. This research adds to the understanding of genetic links between these rare conditions.
A systematic review examines operative strategies for managing Hirschsprung disease in adults, highlighting the need for tailored surgical approaches. This research contributes to the understanding of adult presentations of this rare condition.
A recent study provides indirect evidence supporting the volume-outcome relationship in corrective surgery for Hirschsprung disease, drawing insights from adult colorectal surgery. This research may influence surgical practices and outcomes for patients with this rare condition.