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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

Excerpted from the GeneReview: Caffey Disease
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, soft-tissue swelling, and pain, with onset between birth and five months and spontaneous resolution by age two years. Recurrence of bone hyperostosis, fever, soft-tissue swelling, and pain can occur later in life. Adults with a history of Caffey disease in childhood may have joint laxity, skin hyperextensibility, hernias, short stature, and an increased risk for bone fractures and/or deformities.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Andrea Guerin
Lucie Dupuis
Roberto Mendoza-Londono
view full author information

Available tests

54 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

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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