hard skin syndrome Parana type
MeSH: C564905ORPHA: 2812
Overview
rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death
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 hard skin syndrome Parana type, sourced from HPO and Orphanet clinical annotations.
Round facePectus carinatumHyperkeratosisThickened skinTapered fingerGrowth delayRespiratory insufficiencyGeneralized hirsutismShort statureRestricted chest movementWide intermamillary distanceGeneralized hyperpigmentation
Classification & Codes
MeSH Code
C564905Orphanet Code
ORPHA:2812hard skin syndrome Parana type
| MeSH | C564905 |
| Orphanet | ORPHA:2812 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO