ORPHA:140
Campomelic dysplasia
Also known as: Campomelic dwarfism
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,208
Trials
0
Interventional, condition-specific
Researchers
1,259
Distinct authors in sample
Gene link
SOX9
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare skeletal characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007251
- MeSH:D055036
- OMIM:114290
- UMLS:C1861922
- NCIT:C84609
Additional Mondo synonyms (4)
CMD · Campomelic Syndrome · campomelic dwarfism · campomelic dysplasia
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.”
2/6 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.
- Gene identifiedPresent
Definitive — SOX9
- LiteraturePresent
1,208 matched papers (443 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (SOX9).
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?
1,208
1,208 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.
1,208 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).
443 in the last 10 years · low confidence
Phrase hits: 1,208 · MeSH hits: 0
Who's working on it?
1,259
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.
- 01Lefebvre V6 papers · 2025
The Children's Hospital of Philadelphia, Philadelphia, PA, United States. Electronic address: lefebvrev1@email.chop.edu.
Papers in Europe PMC - 02Nishimura G6 papers · 2025
Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Japan.
Papers in Europe PMC - 03Scherer G5 papers · 2017
Institute of Human Genetics, Freiburg University Hospital, Freiburg, Germany.
Papers in Europe PMC - 04Harley V4 papers · 2024
Sex Development Laboratory, Hudson Institute of Medical Research, PO Box 5152, Melbourne, VIC, 3168, Australia. vincent.harley@hudson.org.au.
Papers in Europe PMC - 05Haseeb A4 papers · 2025
Department of Surgery/Division of Orthopedic Surgery, Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, United States.
Papers in Europe PMC - 06Angelozzi M3 papers · 2024
Department of Surgery/Division of Orthopedic Surgery, Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, United States.
Papers in Europe PMC - 07Baffico AM3 papers · 2016
Human Genetics Service, Molecular Biology Section, IRCCS (Istituto di Ricerca a Carattere Clinico Scientifico) Galliera Hospital, Genoa, Italy.
Papers in Europe PMC - 08Bagheri-Fam S3 papers · 2022
Sex Development Laboratory, Hudson Institute of Medical Research, PO Box 5152, Melbourne, VIC, 3168, Australia.
Papers in Europe PMC - 09Chan WY3 papers · 2025
School of Biomedical Sciences, The Chinese University of Hong Kong, Shatin, Hong Kong, China.
Papers in Europe PMC - 10Guo L3 papers · 2025
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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.
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 2026-07-26This 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.
"Campomelic dysplasia" OR "Campomelic dwarfism" OR "Campomelic Syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Campomelic dysplasia" OR "Campomelic dwarfism" OR "Campomelic Syndrome" OR "SOX9"
Recall-expansion terms: SOX9
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CMD
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
- Publication count (1208) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T12:36:37.244Z