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Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
9 publications have been identified in PubMed for Waardenburg syndrome type 2. Research spans Case Report / Case Series (67%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (11%).
Ersson B (2025). [PMID: 40364458](https://pubmed.ncbi.nlm.nih.gov/40364458/). *Neurogastroenterol Motil*. [Case Report / Case Series]
Han W (2025). [PMID: 39849854](https://pubmed.ncbi.nlm.nih.gov/39849854/). *Hum Mol Genet*. [Case Report / Case Series]
Hou F (2025). [PMID: 40879289](https://pubmed.ncbi.nlm.nih.gov/40879289/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Aboagye ET (2025). [PMID: 41516007](https://pubmed.ncbi.nlm.nih.gov/41516007/). *Int J Mol Sci*. [Review / Meta-Analysis]
Li Z (2024). [PMID: 38642155](https://pubmed.ncbi.nlm.nih.gov/38642155/). *Mol Biol Rep*. [Basic Science / Preclinical]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Waardenburg syndrome type 2
Li K (2024). [PMID: 39732942](https://pubmed.ncbi.nlm.nih.gov/39732942/). *Sci Rep*. [Basic Science / Preclinical]
Li Y (2024). [PMID: 38659011](https://pubmed.ncbi.nlm.nih.gov/38659011/). *BMC Med Genomics*. [Case Report / Case Series]
Stephenson KAJ (2024). [PMID: 38853699](https://pubmed.ncbi.nlm.nih.gov/38853699/). *Ophthalmic Genet*. [Case Report / Case Series]
Kankipati SM (2024). [PMID: 38854277](https://pubmed.ncbi.nlm.nih.gov/38854277/). *Cureus*. [Case Report / Case Series]