ORPHA:2812
Parana hard skin syndrome
Also called Hard skin syndrome, Parana type
- Body system
- Skin diseases
- Inheritance pattern
- Not documented in Orphadata
- Typical age of onset
- Infancy
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2812 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Thickened skin
- Growth delay
- Restricted chest movement
- Generalized hyperpigmentation
- Tapered finger
- Respiratory insufficiency