ORPHA:90324
Cockayne syndrome type 3
Also called Cockayne syndrome type III
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Antenatal, Infancy, Neonatal
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:90324 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Basal ganglia calcification
- Astrocytosis
- Dense calcifications in the cerebellar dentate nucleus
- Subcortical white matter calcifications
- Abnormal myelination
- Peripheral axonal neuropathy