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Start free with EleplanCOFS syndrome
ORPHA:1466Clinical subtype
Also called Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2
What it is
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
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%
20- Abnormal nasal morphology
- Aplasia/Hypoplasia of the cerebellum
- Arthrogryposis multiplex congenita
- Camptodactyly of finger
- Cataract
- Cerebral calcification
- Cerebral cortical atrophy
- Death in infancy
- Everted lower lip vermilion
- Feeding difficulties in infancy
- Hypertonia
- Hypotonia
- Joint stiffness
- Microcephaly
- Micrognathia
- Microphthalmia
- Prominent metopic ridge
- Severe global developmental delay
- Short stature
- Wide nasal bridge
Common30–79%
9These 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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