ORPHA:758
Pseudoxanthoma elasticum
Also called Gronblad-Strandberg-Touraine syndrome, PXE
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- 1-9 / 100 000 (Europe)
- Rarity class
- 1-9 / 100 000
ORPHA:758 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Thickened nuchal skin fold
- Retinopathy
- Retinal hemorrhage
- Abnormality of the skin
- Angioid streaks of the fundus
- Excessive wrinkled skin