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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.
Features include very common findings: Thickened skin, Growth delay, and Generalized hyperpigmentation; and common findings: Tapered finger. 15 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 4 | Abnormality of the skin, Thickened, rough skin (hyperkeratosis), Thickened skin |
Phenotype severity distribution: 3 very common features, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Parana hard-skin syndrome.
2 publications have been identified in PubMed for Parana hard-skin syndrome. Research spans Other (50%) and Review / Meta-Analysis (50%).
Unknown (2026). [PMID: 41913261](https://pubmed.ncbi.nlm.nih.gov/41913261/). *Diabetol Metab Syndr*. [Other]
Welc N (2025). [PMID: 40572093](https://pubmed.ncbi.nlm.nih.gov/40572093/). *Microorganisms*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:35 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Parana hard-skin syndrome
3 |
Severe postnatal growth retardation, Growth delay, Short stature |
Lungs and breathing | 1 | Difficulty breathing (respiratory insufficiency) |
Head and neck | 1 | Round face |
Arms and legs | 1 | Tapered finger |