Parana hard-skin syndrome
MONDO:0009838Mondo
Findings
No curated finding names Parana hard-skin syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A 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.
Definition from the Mondo Disease Ontology (MONDO:0009838), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Generalized hyperpigmentationHPOHP:0007440
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Restricted chest movementHPOHP:0006596
- Very frequent (80% to 99% of cases)
- Thickened skinHPOHP:0001072
- Very frequent (80% to 99% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Frequent (30% to 79% of cases)
- Tapered fingerHPOHP:0001182
- Frequent (30% to 79% of cases)
- Generalized hirsutismHPOHP:0002230
- Occasional (5% to 29% of cases)
- HyperkeratosisHPOHP:0000962
- Occasional (5% to 29% of cases)
- Pectus carinatumHPOHP:0000768
- Occasional (5% to 29% of cases)
- Round faceHPOHP:0000311
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
- Occasional (5% to 29% of cases)
- Wide intermamillary distanceHPOHP:0006610
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: Parana hard-skin syndrome
- Also called
- hard skin syndrome Parana typehard skin syndrome, Parana typehard-skin syndrome, Parana type