Features include: Heterochromia iridis, White forelock, Inner ear hearing loss (sensorineural hearing impairment), and Hypopigmented skin patches and 5 more.

EDN3 encodes endothelin 3 (238 aa). Endothelins are endothelium-derived vasoconstrictor peptides Highest expression in Vagina (141.1 TPM) and Thyroid (34.7 TPM).

Waardenburg syndrome type 4B has been associated with mutations in the EDN3 gene on chromosome 20.

The EDN3 protein participates in EDNRA,EDNRB bind EDNs and EDN1, EDN3:EDNRB pathways.

EDN3 is classified as a druggable target (Druggable Genome and Hormone Activity categories) with score 5.5.

Genetic testing for EDN3 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for Waardenburg syndrome type 4B has been reported in the published literature.

No clinical trials have been registered for Waardenburg syndrome type 4B.

9 publications have been identified in PubMed for Waardenburg syndrome type 4B. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Diagnostic / Biomarker (11%).

Recent Publications

• Mahoney K (2026). [PMID: 41795619](https://pubmed.ncbi.nlm.nih.gov/41795619/). *American journal of medical genetics. Part A*. [Review / Meta-Analysis]

• Aboagye ET (2025). [PMID: 41516007](https://pubmed.ncbi.nlm.nih.gov/41516007/). *International journal of molecular sciences*. [Review / Meta-Analysis]

• Bharadwaj T (2025). [PMID: 40371963](https://pubmed.ncbi.nlm.nih.gov/40371963/). *Clinical genetics*. [Review / Meta-Analysis]

• Tan J (2025). [PMID: 39868048](https://pubmed.ncbi.nlm.nih.gov/39868048/). *iScience*. [Epidemiology / Natural History]

• Ersson B (2025). [PMID: 40364458](https://pubmed.ncbi.nlm.nih.gov/40364458/). *Neurogastroenterology and motility*. [Case Report / Case Series]