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ORPHA:1310

Caffey disease

medium confidenceDisorder

Also known as: Infantile cortical hyperostosis

Publications

607

75th percentile

Trials

1

Interventional, condition-specific

Researchers

1,106

Distinct authors in sample

Gene link

COL1A1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Caffey disease is an osteosclerotic 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, disease onset has also been described.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

infantile cortical hyperostosis

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — COL1A1

  2. LiteraturePresent

    607 matched papers (160 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (COL1A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

607

607 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

607 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

160 in the last 10 years · medium confidence · 75th percentile (publications denominator)

Phrase hits: 607 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,106

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Mäkitie O4 papers · 2023

    Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

    Papers in Europe PMC
  2. 02
    Al Kaissi A3 papers · 2014

    Ludwig Boltzmann Institute of Osteology, The Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Heinrich Collin Street 30, 1140 Vienna, Austria ; Orthopaedic Hospital of Speising, Paediatric Department, Speisinger Street 109, 1130 Vienna, Austria.

    Papers in Europe PMC
  3. 03
    Hytönen MK3 papers · 2020

    Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.

    Papers in Europe PMC
  4. 04
    Jüppner H3 papers · 2014

    Pediatric Nephrology Unit and Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Electronic address: hjueppner@partners.org.

    Papers in Europe PMC
  5. 05
    le Merrer M3 papers · 2009
    Papers in Europe PMC
  6. 06
    Lohi H3 papers · 2020

    Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.

    Papers in Europe PMC
  7. 07
    Shah S3 papers · 2024

    Smt. NHL Municipal Medical College, Pritan Rai Cross Road, Ellise Bridge, Paldi, Ahmedabad, Gujarat 380006 India.

    Papers in Europe PMC
  8. 08
    Suri D3 papers · 2020

    Advanced Pediatrics Center, Postgraduate Institute of Medical Education and Research, Chandigarh-160012, India.

    Papers in Europe PMC
  9. 09
    Wang Y3 papers · 2021

    Shandong Provincial Hospital Affiliated to Shandong First Medical University, Ji'nan, China.

    Papers in Europe PMC
  10. 10
    Zhang L3 papers · 2026

    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Caffey disease" OR "Infantile cortical hyperostosis"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Caffey disease" OR "Infantile cortical hyperostosis" OR "COL1A1"

Recall-expansion terms: COL1A1

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T17:00:34.184Z