ORPHA:93307
Multiple epiphyseal dysplasia type 4
Also known as: Autosomal recessive multiple epiphyseal dysplasia · EDM4 · MED4 · Polyepiphyseal dysplasia type 4 · rMED
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
72
47.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,418
Distinct authors in sample
Gene link
SLC26A2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Multiple epiphyseal type 4 is a multiple epiphyseal with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal type 4 follows an mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
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:0009189
- MeSH:C535504
- OMIM:226900
- UMLS:C1847593
Additional Mondo synonyms (5)
Recessive Multiple Epiphyseal Dysplasia · SLC26A2 multiple epiphyseal dysplasia (disease) · autosomal recessive multiple epiphyseal dysplasia · epiphyseal dysplasia, multiple, type 4 · multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2
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 — SLC26A2
- LiteraturePresent
72 matched papers (36 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 (SLC26A2).
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?
72
72 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.
72 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).
36 in the last 10 years · medium confidence · 47.5th percentile (publications denominator)
Phrase hits: 72 · MeSH hits: 0
Who's working on it?
1,418
Distinct author names in 72 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.
- 01
- 02
- 03
- 04
- 05Rossi A10 papers · 2023
Division of Metabolic and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland.
Papers in Europe PMC - 06
- 07
- 08
- 09
- 10
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.
medium 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 multiple epiphyseal dysplasia 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: multiple epiphyseal dysplasia
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.
"Multiple epiphyseal dysplasia type 4" OR "Autosomal recessive multiple epiphyseal dysplasia" OR "Polyepiphyseal dysplasia type 4" OR "Recessive Multiple Epiphyseal Dysplasia" OR "SLC26A2 multiple epiphyseal dysplasia (disease)" OR "epiphyseal dysplasia, multiple, type 4" OR "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2"
MeSH descriptor terms unioned into the query: Epiphyseal dysplasia, multiple, 4
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multiple epiphyseal dysplasia type 4" OR "Autosomal recessive multiple epiphyseal dysplasia" OR "Polyepiphyseal dysplasia type 4" OR "Recessive Multiple Epiphyseal Dysplasia" OR "SLC26A2 multiple epiphyseal dysplasia (disease)" OR "epiphyseal dysplasia, multiple, type 4" OR "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2" OR "Epiphyseal dysplasia, multiple, 4" OR "SLC26A2" OR "SLC26A2-related skeletal dysplasia"
Recall-expansion terms: SLC26A2, SLC26A2-related skeletal dysplasia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"multiple epiphyseal dysplasia"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: EDM4; MED4; rMED
Confidence reasoning
- Preferred label is multi-word and distinctive
- 3 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:13:55.706Z