piebald trait-neurologic defects syndrome
MeSH: C536955ORPHA: 28851 Treatment Available
Overview
human disease
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Levodopa/Carbidopa | Oral tablet, various combinations (25/100mg, 25/250mg); Extended-release tablet | FDA Approved | 10 | 7d |
Clinical Presentation
Signs and symptoms associated with piebald trait-neurologic defects syndrome, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentAbnormal eyelash morphologyAbnormal eyebrow morphologyCutaneous photosensitivityPoikilodermaHypopigmented skin patchesHeterochromia iridisIntellectual disabilityAtaxiaAganglionic megacolonHypopigmentation of hairIrregular hyperpigmentationNeoplasm of the skinMacule
Classification & Codes
MeSH Code
C536955Orphanet Code
ORPHA:2885piebald trait-neurologic defects syndrome
| MeSH | C536955 |
| Orphanet | ORPHA:2885 |
| Treatments | 1 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO