Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanCockayne syndrome
ORPHA:191Disease
What it is
Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
Key facts
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)
- Age of onset
- All ages
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
12Common30–79%
36- Abnormal eye morphology
- Ataxia
- Basal ganglia calcification
- Carious teeth
- Cataract
- Cerebral atrophy
- Cerebral calcification
- Cognitive impairment
- Congenital contracture
- Contractures of the large joints
- Cutaneous photosensitivity
- Decreased nerve conduction velocity
- Deeply set eye
- Demyelinating peripheral neuropathy
- Dense calcifications in the cerebellar dentate nucleus
- Dry hair
- Enamel hypoplasia
- Feeding difficulties in infancy
- Fine hair
- Gait disturbance
- Gastroesophageal reflux
- Gliosis
- Global developmental delay
- High-frequency sensorineural hearing impairment
- Patchy demyelination of subcortical white matter
- Peripheral neuropathy
- Premature skin wrinkling
- Progressive gait ataxia
- Progressive visual loss
- Reduced subcutaneous adipose tissue
- Retinal dystrophy
- Seizure
- Sensorimotor neuropathy
- Skeletal muscle atrophy
- Somatic sensory dysfunction
- Subcortical white matter calcifications
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 reported in subtypes
Orphanet records these genes on 4 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
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.