How is Caffey disease inherited?

Caffey disease follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is Caffey disease?

Caffey disease is classified as not well established. The estimated prevalence is approximately Unknown. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Caffey disease diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Caffey disease?

Treatment for Caffey disease generally focuses on managing symptoms such as pain, fever, and inflammation. Since the condition is self-limited and most children recover by the age of 2 years, care is often supportive and aimed at ensuring comfort during the active phase of the disease.

What complications can arise from Caffey disease?

Caffey disease usually resolves on its own by the age of 2 years, and long-term complications are rare. However, during the active phase, children may experience significant discomfort due to pain and swelling. It's important to monitor symptoms and provide supportive care to ensure the child's comfort.

How does Caffey disease affect daily life for my child?

Children with Caffey disease may experience irritability, fever, and pain, which can affect their daily activities. Soft tissue swelling near the affected bones can also cause discomfort. Supportive care focused on managing these symptoms can help improve your child's quality of life during the active phase of the disease.

What is the prognosis for children with Caffey disease?

The prognosis for children with Caffey disease is generally good. Most children recover by the age of 2 years, and long-term complications are rare. As symptoms improve with age, the overall quality of life is usually not affected in the long term.

Should we see a specialist for Caffey disease?

While specific information about specialists for Caffey disease is limited, it can be helpful to consult a pediatrician or a specialist in pediatric bone disorders. They can provide guidance on managing symptoms and ensuring your child receives appropriate care during the active phase of the disease.

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Caffey disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Caffey disease

MONDO:0007244

Also known as:cortical congenital hyperostosisinfantile cortical hyperostosis

Overview

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.

GeneticsAutosomal dominant · COL1A1 (chr 17)

OnsetCONGENITAL, INFANTILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Subperiosteal bone formation and Periosteal thickening of long tubular bones. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Joint hypermobility, Subperiosteal bone formation, Periosteal thickening of long tubular bones

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

COL1A1 encodes collagen type I alpha 1 chain (1,464 aa). Type I collagen is a member of group I collagen (fibrillar forming collagen) Highest expression in Cells Cultured fibroblasts (3,664 TPM) and Cervix Ectocervix (1,225 TPM).

Caffey disease is caused by mutations in the COL1A1 gene on chromosome 17.

The COL1A1 protein participates in COL1A1 gene expression is stimulated by RUNX2 and RB1 pathway.

COL1A1 is classified as a druggable target (Clinically Actionable and Druggable Genome categories) with score 1.4.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Caffey disease have been published.

Suggestive Findings

Caffey disease should be suspected in probands with the following clinical, radiographic, laboratory, and family history findings. Clinical and radiographic findings typically appear between birth and age five months and resolve spontaneously by age two years, although recurrence in adolescence is possible.

Clinical findings

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Caffey disease. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Caffey disease have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Caffey disease, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Caffey Disease: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 6.

Caffey Disease: Recommended Surveillance

System/Concern | Evaluation | Frequency

Skeletal manifestations

| Assess stature. | Annually throughout childhood

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Caffey disease.

11 publications have been identified in PubMed for Caffey disease. Research spans Case Report / Case Series (73%), Diagnostic / Biomarker (18%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Patient case studies	8	73%

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:114000

Orphanet

European rare disease database

Orphanet:1310

GARD

Genetic and Rare Diseases Info Center

GARD:1051

Questions for Your Care Team

→Should I pursue genetic testing for COL1A1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Caffey disease

Caffey disease, also known as cortical congenital hyperostosis or infantile cortical hyperostosis, is a rare bone disorder that causes rapid new bone formation and inflammation in infants. It usually affects the shafts of long bones such as those in the arms and legs, as well as the ribs, mandible (jawbone), scapulae (shoulder blades), and clavicles (collarbones). Most cases of Caffey disease begin around 2 months of age, although in some instances the disease may start before birth. The condition is marked by acute inflammation that leads to pain, fever, irritability, and swelling in the soft tissues. Despite the dramatic changes seen in the bones during the active phase, the condition is usually self-limited and resolves by the time children are around 2 years old.

People with Caffey disease often experience symptoms such as fever, irritability, and pain. There is also noticeable soft tissue swelling near the affected bones. The inflammation associated with the disease can lead to discomfort and changes in the appearance of the bones during the active phase of the illness.

Caffey disease is linked to changes in the COL1A1 gene, which plays a key role in the production of collagen, an important protein found in bones and connective tissue. This genetic association is thought to contribute to the abnormal inflammation and rapid new bone formation seen in the condition. However, while the genetic factor is recognized, information about additional causes or risk factors is currently limited for this condition. Associated genes include COL1A1.

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System/Concern	Evaluation	Comment
Joint connective tissue manifestations	Eval for joint range of motion, skin hyperextensibility, hernias	—
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of Caffey disease to facilitate medical personal decision making MOI = mode of inheritance 1.
Caffey Disease: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Skeletal manifestations	Anti-inflammatory agents, antipyretics, analgesics can be used in the short term to swelling fever relieve pain.	No recommendations for the prevention of recurrence of hyperostosis currently exist.
Joint connective tissue manifestations	Standard treatments for joint hypermobility, skin hyperextensibility, hernias	To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6.
Caffey Disease: Recommended Surveillance System/Concern	Evaluation	Frequency
Skeletal manifestations	Assess stature.	Annually throughout childhood Assess fracture history.
Joint connective tissue manifestations	Assess joint extensibility hernias.	Annually DXA = dual-energy x-ray absorptiometry Evaluation of Relatives at Risk See for issues related to testing of at-risk relatives for genetic counseling purposes. Search ClinicalTrials.

Kisho

Caffey disease

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Skeletal manifestations

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

ANTXR2

GNPTAB

Therapies Under Investigation

Clinical Trials

Joint connective tissue manifestations

Recent Publications

Caffey disease

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Skeletal manifestations

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Caffey disease?

What are the symptoms of Caffey disease?

What causes Caffey disease?

How is Caffey disease inherited?

How rare is Caffey disease?

How is Caffey disease diagnosed?

Are there treatments for Caffey disease?

What complications can arise from Caffey disease?

How does Caffey disease affect daily life for my child?

What is the prognosis for children with Caffey disease?

Should we see a specialist for Caffey disease?

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

ANTXR2

GNPTAB

Therapies Under Investigation

Clinical Trials

Joint connective tissue manifestations

Recent Publications