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GTR Home > Conditions/Phenotypes > Infantile cortical hyperostosis

Infantile cortical hyperostosis

Synonyms
Caffey Disease; Hyperostosis, Cortical, Congenital; P1PK BLOOD GROUP SYSTEM, P(2) PHENOTYPE
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Unknown inheritance (Orphanet)

Summary

Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, joint swelling, and pain in children, with onset between birth and five months and spontaneous resolution by age two years. Episodes of recurrence of the manifestations of Caffey disease have been reported multiple times in individuals with the classic infantile presentation. Limited follow-up information suggests that adults who had Caffey disease in childhood may manifest joint laxity, skin hyperextensibility, hernias, short stature, and an increased risk for bone fractures and/or deformities. [from GeneReviews]

Available tests

54 tests are in the database for this condition.

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Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4, COL1A1
    Summary: collagen type I alpha 1 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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