Caffey disease
Synonyms: Infantile cortical hyperostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Caffey disease | Infantile cortical hyperostosis |
| fr | Maladie de Caffey | Hyperostose corticale infantile |
| de | Caffey-Krankheit | Hyperostose, infantile kortikale |
| es | Enfermedad de Caffey | Hiperostosis cortical del lactante |
| it | Malattia di Caffey | Iperostosi corticale infantile |
| nl | Ziekte van Caffey | Infantiele corticale hyperostose |
| pt | Doença Caffey | |
| pl | Choroba Caffey'a | Dziecięca hiperostoza korowa |
| cs | Caffeyova nemoc | Infantilní kortikální hyperostóza |
| uk | Хвороба Каффі | Інфантильний кортикальний гіперостоз |
| zh | 婴儿骨皮质增生症 | 婴儿骨皮质增生症 |
| tr | Caffey hastalığı | İnfantil kortikal hiperostoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 114000 | E | validated | |
| ICD-10 | M89.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0007244 | E | validated | |
| MeSH | D006958 | E | validated | |
| UMLS | C0020497 | E | validated | |
| GARD | 1051 | E | validated | |
| MedDRA | 10073206 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93443Neonatal osteosclerotic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL1A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2197 | ENSG00000108821 | 120150 | 17q21.33 | collagen type I alpha 1 chain | 22855962[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | [EXPERT]_22855962[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100658 | Cellulitis | |
| HP:0005731 | Cortical irregularity | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0001945 | Fever | |
| HP:0100963 | Hyperesthesia | |
| HP:0006465 | Periosteal thickening of long tubular bones | |
| Occasional (29-5%) | ||
| HP:0004490 | Calvarial hyperostosis | |
| HP:0005791 | Cortical thickening of long bone diaphyses | |
| HP:0000324 | Facial asymmetry | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0000520 | Proptosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1310
- This record as JSON: /data/d/1310.json