PCWH syndrome
Findings
No curated finding names PCWH syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.
Definition from the Mondo Disease Ontology (MONDO:0012198), read 2026-09-29. CC BY 4.0.
- Onset and course
- Neonatal onset · Fetal onset
HPO, annotations 2026-09-02
Features
50 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.
- AlacrimaHPOHP:0000522
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Very frequent (80% to 99% of cases)
Show the remaining 38
- IleusHPOHP:0002595
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Peripheral neuropathyHPOHP:0009830
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- 2 of 3 reported patients
- Very frequent (80% to 99% of cases)
- TelecanthusHPOHP:0000506
- Very frequent (80% to 99% of cases)
- Decreased lacrimationHPOHP:0000633
Genes
1 gene
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.
- SOX10HGNC:11190
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: PCWH syndrome
- Also called
- neurologic Waardenburg-Shah syndromePCWHperipheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung diseaseWS4 plus