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Start free with EleplanCockayne syndrome type 1
ORPHA:90321Clinical subtype
Also called Cockayne syndrome type I
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%
12- Abnormal facial shape
- Absent brainstem auditory responses
- Basal ganglia calcification
- Cutaneous photosensitivity
- Deeply set eye
- Elevated circulating hepatic transaminase concentration
- Failure to thrive
- Foot joint contracture
- Hearing impairment
- Intellectual disability
- Pigmentary retinopathy
- Postnatal growth retardation
Common30–79%
21- Abnormality of peripheral nerve conduction
- Abnormality of temperature regulation
- Abnormality of the dentition
- Ataxia
- Cataract
- Decreased lacrimation
- Diarrhea
- Gait disturbance
- Hyperreflexia
- Hypertension
- Hypohidrosis
- Increased blood urea nitrogen
- Long face
- Mandibular prognathia
- Optic atrophy
- Postural instability
- Progeroid facial appearance
- Proteinuria
- Scoliosis
- Tremor
- Visual impairment
Sometimes5–29%
22- Anemia
- Anodontia
- Anophthalmia
- Conjunctivitis
- Delayed eruption of primary teeth
- Enamel hypoplasia
- Hepatomegaly
- Hypermelanotic macule
and 14 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.
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