ORPHA:191
Cockayne syndrome
- Body system
- Skin diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- 1-9 / 1 000 000 (Europe)
- Rarity class
- 1-9 / 1 000 000
ORPHA:191 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Progressive microcephaly
- Progressive sensorineural hearing impairment
- Pigmentary retinopathy
- Atypical behavior
- Mental deterioration
- Cerebellar atrophy