ORPHA:90321
Cockayne syndrome type 1
Also called Cockayne syndrome type I
- 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:90321 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Absent brainstem auditory responses
- Foot joint contracture
- Postnatal growth retardation
- Hearing impairment
- Deeply set eye
- Pigmentary retinopathy