COFS syndrome
Findings
No curated finding names COFS syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
Definition from the Mondo Disease Ontology (MONDO:0008926), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal nasal morphologyHPOHP:0005105
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Very frequent (80% to 99% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Cerebral calcificationHPOHP:0002514
- Very frequent (80% to 99% of cases)
Show the remaining 20
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- Prominent metopic ridgeHPOHP:0005487
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
5 names
Resolves to: COFS syndrome
- Also called
- Cerebro Oculo Facio Skeletal Syndromecerebro-oculo-facio-skeletal syndromecerebrooculofacioskeletal syndromeCOFSPena-Shokeir syndrome type 2