PCWH syndrome
MeSH: C563789ORPHA: 163746
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with PCWH syndrome, sourced from HPO and Orphanet clinical annotations.
TelecanthusNystagmusHypopigmented skin patchesHeterochromia iridisIntellectual disabilitySeizureAtaxiaHypotoniaSpasticityGlobal developmental delayConstipationAbdominal painAganglionic megacolonIleusAbnormal pyramidal signPeripheral neuropathyHypogonadismProminent nasal bridgeUnderdeveloped nasal alaeWide nasal bridgeAbnormal eyebrow morphologyDecreased lacrimationBlue iridesSynophrysWhite forelockPremature graying of hairMicrocolonHypopigmentation of hairDysmyelinating leukodystrophyHypohidrosisTremorSplenomegalyHepatomegalyArthrogryposis multiplex congenitaArrhythmiaAbnormal autonomic nervous system physiology
Classification & Codes
MeSH Code
C563789Orphanet Code
ORPHA:163746PCWH syndrome
| MeSH | C563789 |
| Orphanet | ORPHA:163746 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO