Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanCockayne syndrome type 3
ORPHA:90324Clinical subtype
Also called Cockayne syndrome type III
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)Cockayne syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
5Common30–79%
19- Abnormality of peripheral nerve conduction
- Adult onset sensorineural hearing impairment
- Areflexia
- Brain atrophy
- Cerebral white matter atrophy
- Cutaneous photosensitivity
- Demyelinating peripheral neuropathy
- Functional motor deficit
- Gait disturbance
- Hyperreflexia
- Intellectual disability, mild
- Intention tremor
- Neurogenic bladder
- Peripheral axonal neuropathy
- Peripheral neuropathy
- Premature coronary artery atherosclerosis
- Skeletal muscle atrophy
- Unsteady gait
- Vascular calcification
Sometimes5–29%
32- Abnormal facial shape
- Carious teeth
- Cataract
- Cognitive impairment
- Conductive hearing impairment
- Deeply set eye
- Dry hair
- Elevated circulating hepatic transaminase concentration
and 24 more in this range
Rare1–4%
18- Aortic root aneurysm
- Cardiomyopathy
- Corneal ulceration
- Flexion contracture
- Keratoconjunctivitis sicca
- Lentiglobus
- Microcornea
- Microphthalmia
and 10 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.