ORPHA:239
Dyggve-Melchior-Clausen disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
808
Trials
0
Interventional, condition-specific
Researchers
1,314
Distinct authors in sample
Gene link
DYM
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic primary bone of the spondylo-epi-metaphyseal (SEMD) group characterized by short-trunked dwarfism, protruding sternum, microcephaly, and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests)
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:0009130
- OMIM:223800
- UMLS:C0265286
- NCIT:C124844
Additional Mondo synonyms (2)
Dyggve Melchior Clausen syndrome · Dyggve-Melchior-Clausen syndrome
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 — DYM
- LiteraturePresent
808 matched papers (325 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 (DYM).
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?
808
808 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.
808 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).
325 in the last 10 years · low confidence
Phrase hits: 808 · MeSH hits: 0
Who's working on it?
1,314
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.
- 01Cormier-Daire V8 papers · 2009Papers in Europe PMC
- 02El Ghouzzi V7 papers · 2015
Department of Medical Genetics and INSERM U393, Hôpital Necker Enfants Malades, 75015 Paris, France.
Papers in Europe PMC - 03Zhang Y6 papers · 2026
Biotherapy Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. yizhang@zzu.edu.cn.
Papers in Europe PMC - 04Li W4 papers · 2026
Department of Oncology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Papers in Europe PMC - 05Li X4 papers · 2025
National Engineering Laboratory for Animal Breeding and Key Laboratory of Animal Genetics and Breeding, College of Animal Science and Technology, MARA, China Agricultural University, No. 2 Yuanmingyuan West Rd, Beijing, 100193, China.
Papers in Europe PMC - 06Gressens P3 papers · 2015
Inserm, U1141, Paris, France, Sorbonne Paris Cité, Univ Paris Diderot, UMRS 1141, Paris, France, Centre for the Developing Brain, Department of Division of Imaging Sciences and Biomedical Engineering, King's College London, King's Health Partners, St. Thomas' Hospital, London, UK.
Papers in Europe PMC - 07Huang L3 papers · 2022
Biotherapy Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. lanhuang@zzu.edu.cn.
Papers in Europe PMC - 08Kinning E3 papers · 2008
Division of Medical Genetics, Department of Genetics and Cardiovascular Science, University of Leicester, Leicester, UK.
Papers in Europe PMC - 09Le Merrer M3 papers · 2004Papers in Europe PMC
- 10Li J3 papers · 2026
Chongqing Academy of Animal Sciences, Chongqing, 402460, China.
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.
"Dyggve-Melchior-Clausen disease" OR "Dyggve Melchior Clausen syndrome" OR "Dyggve-Melchior-Clausen syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dyggve-Melchior-Clausen disease" OR "Dyggve Melchior Clausen syndrome" OR "Dyggve-Melchior-Clausen syndrome" OR "DYM"
Recall-expansion terms: DYM
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (808) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T13:01:59.922Z