Caffey disease
Findings
No curated finding names Caffey disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.
Definition from the Mondo Disease Ontology (MONDO:0007244), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
22 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.
- Periosteal thickening of long tubular bonesHPOHP:0006465
- 3 of 3 reported patients · Infantile onset
- Frequent (30% to 79% of cases)
- Subperiosteal bone formationHPOHP:0031485
- 3 of 3 reported patients
- CellulitisHPOHP:0100658
- Very frequent (80% to 99% of cases)
- Cortical irregularityHPOHP:0005731
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- FeverHPOHP:0001945
- Frequent (30% to 79% of cases)
Show the remaining 10
- ProptosisHPOHP:0000520
- Occasional (5% to 29% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Occasional (5% to 29% of cases)
- ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
- IrritabilityMondoHP:0000737
- Joint hypermobilityHPOHP:0001382
- Thickened cortex of the clavicleHPOHP:6000936
- Thickened cortex of the mandibleHPOHP:6000937
Genes
1 gene
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.
- COL1A1HGNC:2197
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Caffey disease
- Also called
- infantile cortical hyperostosis