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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Caffey disease | |
| Synonyms |
Infantile cortical hyperostosis |
|
| Definitions |
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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_1310 |
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| alternative_term |
Infantile cortical hyperostosis
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|
| 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.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1310 |
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| has_age_of_onset |
Antenatal Childhood Infancy Neonatal
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| has_inheritance |
Autosomal dominant Unknown
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| hasDbXref |
MeSH:D006958 ICD-10:M89.8 UMLS:C0020497 OMIM:114000 ICD-11:LD24.1Y MedDRA:10073206
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|
| label |
Caffey disease
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|
| notation |
ORPHA:1310
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_1310
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| prefLabel |
Caffey disease
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| present_in |
Worldwide AND has_cases/families_value : 100.0 (Case) Worldwide AND has_point_prevalence_range : Unknown
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| treeView | ||
| subClassOf |
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