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Caffey disease

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description 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.
Uniprot Description Characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age.
Disease Ontology Description A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.
Mondo Term and Equivalent IDs
MONDO:0007244:  Caffey disease
GARD:0001051: 
MESH:D006958: 
NCIT:C118423: 
Orphanet:1310: 
SCTID:24752008: 
UMLS:C0020497: