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Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Waardenburg-Shah syndrome.
12 publications have been identified in PubMed for Waardenburg-Shah syndrome. Research spans Case Report / Case Series (58%), Basic Science / Preclinical (25%), and Other (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 58% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Waardenburg-Shah syndrome
3 |
25% |
Other research | 1 | 8% |
Research summaries | 1 | 8% |
Liu D (2026). [PMID: 41668496](https://pubmed.ncbi.nlm.nih.gov/41668496/). *Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi*. [Case Report / Case Series]
Ali MN (2026). [PMID: 41940241](https://pubmed.ncbi.nlm.nih.gov/41940241/). *Int Med Case Rep J*. [Case Report / Case Series]
Tan J (2025). [PMID: 39868048](https://pubmed.ncbi.nlm.nih.gov/39868048/). *iScience*. [Basic Science / Preclinical]
Gombojav B (2025). [PMID: 40650035](https://pubmed.ncbi.nlm.nih.gov/40650035/). *Int J Mol Sci*. [Case Report / Case Series]
Ersson B (2025). [PMID: 40364458](https://pubmed.ncbi.nlm.nih.gov/40364458/). *Neurogastroenterol Motil*. [Case Report / Case Series]
Lefèvre MA (2025). [PMID: 41415694](https://pubmed.ncbi.nlm.nih.gov/41415694/). *Front Neurosci*. [Basic Science / Preclinical]
Tan J (2025). [PMID: 40276772](https://pubmed.ncbi.nlm.nih.gov/40276772/). *iScience*. [Other]
Cagan Appak Y (2025). [PMID: 32967600](https://pubmed.ncbi.nlm.nih.gov/32967600/). *Exp Clin Transplant*. [Case Report / Case Series]
An H (2025). [PMID: 40644525](https://pubmed.ncbi.nlm.nih.gov/40644525/). *PLoS Genet*. [Basic Science / Preclinical]
Ghosh S (2024). [PMID: 39641445](https://pubmed.ncbi.nlm.nih.gov/39641445/). *Ear Nose Throat J*. [Review / Meta-Analysis]
AI-curated news mentioning Waardenburg-Shah syndrome
Updated Mar 30, 2026
A recent case report highlights the diagnostic and surgical challenges associated with Waardenburg-Shah syndrome in a resource-limited setting. This study underscores the need for improved awareness and resources to manage rare diseases effectively.