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ORPHA:1310

Caffey disease

low confidenceDisorder

Also known as: Infantile cortical hyperostosis

Publications

47,148

Trials

0

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — COL1A1

  2. LiteraturePresent

    47,148 matched papers (38,424 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Atypical behavior; Fever; Hyperesthesia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

28

Associated phenotypes · MONDO:0007244

  • Atypical behavior
  • Fever
  • Hyperesthesia
  • Scoliosis
  • Periosteal thickening of long tubular bones

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

1 associated chemical · 15 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Alprostadil · marker/mechanism

Pathways: PI3K-Akt signaling pathway; Focal adhesion; ECM-receptor interaction; Platelet activation; AGE-RAGE signaling pathway in diabetic complications; Protein digestion and absorption; Amoebiasis; Extracellular matrix organization

MyDisease.info · MONDO:0007244

Literature

Is anyone studying this?

47,148

47,148 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

47,148 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

38,424 in the last 10 years · low confidence

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?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  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?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Caffey disease — check Associations / patient organisations on that page.

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") OR ("COL1A1" OR "COL1A1 syndrome" OR "COL1A1-related")

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"

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

Query health: ok — strategies attempted: phrase; with hits: phrase

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
  • Publication count (47148) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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