Caffey disease

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in·fan·tile cor·ti·cal hy·per·os·to·sis

[MIM*114000]

neonatal subperiosteal bone formation over many bones, especially the mandible, clavicles, and the shafts of long bones; it follows fever, usually appearing before 6 months of age and disappearing during childhood; familial cases are inherited as autosomal dominant.

Synonym(s): Caffey disease, Caffey syndrome, Caffey-Silverman syndrome

Caffey disease

An autosomal dominant condition MIM 114000 characterised by fever, inflammation, swelling of affected bones (tibia, mandible, ulna and facial bones) and restlessness.

Molecular pathology
Caffey disease is linked to a mutation of COL1A1.

Caffey disease

Infantile cortical hyperostosis Pediatrics An AD condition characterized by fever, inflammation,. swelling of affected bones–tibia, mandible, ulna and facial bones, restlessness

Caffey,

John Patrick, U.S. physician, radiologist, and pediatrician, the father of pediatric radiology, 1895-1978.

Caffey-Silverman syndrome - Synonym(s): Caffey syndrome

Caffey disease - Synonym(s): Caffey syndrome

Caffey syndrome - neonatal subperiosteal bone formation over many bones, especially the mandible and clavicles and the shafts of long bones. Synonym(s): Caffey disease; Caffey-Silverman syndrome; infantile cortical hyperostosis

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References in periodicals archive ?

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

COL1A1 mutation in an Indian child with Caffey disease. Indian J Pediatr.

Expanding the phenotypic spectrum of Caffey disease. Clin Genet.

Enfermedad de Caffey en una familia y trastornos relacionados con el colageno tipo 1

Caffey disease presents in a similar view to Garre's osteomyelitis due to the "onion skin" appearance in the bone.

Garre's Osteomyelitis of the Mandible Caused by Infected Tooth

Case report 363: Infantile cortical hyperostosis (Caffey disease ICH) lilac bones, femora, tibiae and left fibula.