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ORPHA:251262

Familial osteochondritis dissecans

medium confidenceDisorder

Also known as: Osteochondritis dissecans and short stature

Publications

66

51.2th percentile

Trials

1

Interventional, condition-specific

Researchers

620

Distinct authors in sample

Gene link

ACAN

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

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 (4)

OD · SSOAOD · osteochondritis dissecans and short stature · osteochondritis dissecans, short stature, and early-onset osteoarthritis

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 — ACAN

  2. LiteraturePresent

    66 matched papers (44 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

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 (ACAN).

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?

66

66 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

66 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).

44 in the last 10 years · medium confidence · 51.2th percentile (publications denominator)

Phrase hits: 66 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

620

Distinct author names in 66 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
    Aspberg A6 papers · 2022

    Dept. of Clinical Sciences, Lund University

    Papers in Europe PMC
  2. 02
    Stattin EL5 papers · 2022

    Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala 75236, Sweden.

    Papers in Europe PMC
  3. 03
    Heinegård D4 papers · 2017

    Dept. of Clinical Sciences, Lund University

    Papers in Europe PMC
  4. 04
    Nilsson O4 papers · 2025

    Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet and Karolinska University Hospital, Stockholm SE-171 76, Sweden.

    Papers in Europe PMC
  5. 05
    Baron J3 papers · 2017

    Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; and.

    Papers in Europe PMC
  6. 06
    Barry F3 papers · 2023

    Regenerative Medicine Institute (REMEDI), National University of Ireland Galway

    Papers in Europe PMC
  7. 07
    Bjourson T3 papers · 2017

    Northern Ireland Centre for Stratified Medicine, School of Biomedical Sciences, Ulster University, CTRIC building, Altnagelvin Hospital, L’Derry, BT47 6SB

    Papers in Europe PMC
  8. 08
    Cavalleri G3 papers · 2017

    Department of Molecular and Cellular Therapeutics, RCSI, Dublin

    Papers in Europe PMC
  9. 09
    Chen Y3 papers · 2026

    The Second Affiliated Hospital of Guangxi Medical University, Nanning, 530000, Guangxi, China.

    Papers in Europe PMC
  10. 10
    Farrar G3 papers · 2017

    Ocular Genetics Unit, Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland

    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; none in our sample are currently recruiting.

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.

No currently recruiting studies in the matched set. Open the same 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.

"Familial osteochondritis dissecans" OR "Osteochondritis dissecans and short stature" OR "SSOAOD" OR "osteochondritis dissecans, short stature, and early-onset osteoarthritis"

Run this search on Europe PMC

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

"Familial osteochondritis dissecans" OR "Osteochondritis dissecans and short stature" OR "SSOAOD" OR "osteochondritis dissecans, short stature, and early-onset osteoarthritis" OR "ACAN"

Recall-expansion terms: ACAN

Interventional trials matched via: recall-expansion (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 · 0 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

Synonyms dropped by stoplist: OD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T10:42:54.006Z