Waardenburg Syndrome
Waardenburg Syndrome
Waardenburg syndrome is a group of genetic conditions characterised by varying degrees of deafness, pigmentary anomalies of the eyes, hair, and skin, and sometimes minor structural defects. It is a major cause of congenital deafness and can cause heterochromia, white forelock, and patchy skin depigmentation.
Types and Genetics
There are four main types (WS1–WS4), caused by mutations in different genes (PAX3, MITF, SOX10, EDNRB, EDN3, SNAI2). Inheritance is usually autosomal dominant, but some forms are recessive.
Features
- Sensorineural deafness (congenital or progressive)
- Heterochromia (complete or sectoral)
- Pale blue eyes or brilliant blue iris
- White forelock or premature greying
- Patchy skin depigmentation
- Dystopia canthorum (lateral displacement of inner eye corners, in WS1)
Associated Conditions
- May overlap with Hirschsprung's disease (WS4)
- Can be associated with ocular albinism and pigment dispersion syndrome
Diagnosis and Management
Diagnosis is clinical and genetic. Management is supportive: hearing aids, cochlear implants, and cosmetic options for pigmentary changes.
Writing Tips
- Use Waardenburg syndrome to create characters with striking visual features and explore themes of difference, identity, and disability.
- Consider the social and psychological impact of deafness and visible pigmentary changes.