Waardenburg-Shah syndrome
Findings
No curated finding names Waardenburg-Shah syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.
Definition from the Mondo Disease Ontology (MONDO:0019518), read 2026-09-29. CC BY 4.0.
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal eyebrow morphologyHPOHP:0000534
- Very frequent (80% to 99% of cases)
- Abnormal intestine morphologyHPOHP:0002242
- Very frequent (80% to 99% of cases)
- Abnormal macular morphologyHPOHP:0001103
- Very frequent (80% to 99% of cases)
- Abnormality of the eyeHPOHP:0000478
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Very frequent (80% to 99% of cases)
- Aganglionic megacolonHPOHP:0002251
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Very frequent (80% to 99% of cases)
- Intestinal obstructionHPOHP:0005214
- Very frequent (80% to 99% of cases)
- Premature graying of hairHPOHP:0002216
- Very frequent (80% to 99% of cases)
- White eyebrowHPOHP:0002226
- Very frequent (80% to 99% of cases)
Show the remaining 11
- White eyelashesHPOHP:0002227
- Very frequent (80% to 99% of cases)
- White forelockHPOHP:0002211
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- Abnormality of the noseHPOHP:0000366
- Frequent (30% to 79% of cases)
- Olfactory lobe agenesisHPOHP:0001341
- Frequent (30% to 79% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Frequent (30% to 79% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EDN3HGNC:3178
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · PanelApp Australia · Autosomal dominant · 2025
- EDNRBHGNC:3180
- Supportive · Orphanet · Autosomal dominant · 2021
- MITFHGNC:7105
- Supportive · Orphanet · Autosomal dominant · 2021
- SOX10HGNC:11190
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Waardenburg-Shah syndrome
- Also called
- Shah-Waardenburg syndromeWaardenburg syndrome type 4Waardenburg syndrome type IVWaardenburg-Hirschsprung syndromeWS4