ORPHA:93384
Brachydactyly type C
Publications
123
49.6th percentile
Trials
0
Interventional, condition-specific
Researchers
829
Distinct authors in sample
Gene link
GDF5
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare limb characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the is highly variable.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007221
- MeSH:C537093
- OMIM:113100
- UMLS:C1862103
Additional Mondo synonyms (1)
brachydactyly type C
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 — GDF5
- LiteraturePresent
123 matched papers (40 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 (GDF5).
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?
123
123 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.
123 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).
40 in the last 10 years · high confidence · 49.6th percentile (publications denominator)
Phrase hits: 123 · MeSH hits: 5
Who's working on it?
829
Distinct author names in 123 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.
- 01Mundlos S14 papers · 2023
1] Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 02Warman ML8 papers · 2023
Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.
Papers in Europe PMC - 03Dobbs MB6 papers · 2022
Department of Orthopedic Surgery, Washington University School of Medicine, One Children's Place, Suite 4S20, St. Louis, MO 63110, USA. dobbsm@msnotes.wustl.edu
Papers in Europe PMC - 04Seemann P6 papers · 2015
Institut für Medizinische Genetik, Charité, Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 05Cormier-Daire V4 papers · 2023
Department of Genetics, Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hopital Necker-Enfants Malades, Paris, France.
Papers in Europe PMC - 06Gurnett CA4 papers · 2022
Department of Neurology, Washington University in St. Louis, St Louis, Missouri, USA.
Papers in Europe PMC - 07Kjaer KW4 papers · 2013
Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark. klaus@medgen.ku.dk
Papers in Europe PMC - 08Savarirayan R4 papers · 2023
Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Australia. savarirr@cryptic.rch.unimelb.edu.au
Papers in Europe PMC - 09Dathe K3 papers · 2015
Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
Papers in Europe PMC - 10Goodman FR3 papers · 2003Papers 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.
high 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.
Broader category brachydactyly also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: brachydactyly
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Brachydactyly type C"
MeSH descriptor terms unioned into the query: Brachydactyly type C
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Brachydactyly type C" OR "GDF5"
Recall-expansion terms: GDF5
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"brachydactyly"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:19:37.595Z