ORPHA:94068
Spondyloepiphyseal dysplasia congenita
Also known as: Congenital spondyloepiphyseal dysplasia · SEDC · Spranger-Wiedemann disease
Publications
1,454
Trials
0
Interventional, condition-specific
Researchers
1,123
Distinct authors in sample
Gene link
COL2A1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Spondyloepiphyseal congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
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:0008471
- MeSH:C535788
- OMIM:183900
- UMLS:C2745959
Additional Mondo synonyms (4)
SED congenita · Spondyloepiphyseal Dysplasia, Congenital · spondyloepiphyseal dysplasia congenita · spondyloepiphyseal dysplasia, congenital type
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 — COL2A1
- LiteraturePresent
1,454 matched papers (692 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 (COL2A1).
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?
1,454
1,454 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.
1,454 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).
692 in the last 10 years · low confidence
Phrase hits: 1,454 · MeSH hits: 6
Who's working on it?
1,123
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.
- 01Jiang Y5 papers · 2023
Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Papers in Europe PMC - 02Li M5 papers · 2023
Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Papers in Europe PMC - 03Wang O5 papers · 2023
Key Laboratory of Endocrinology, Department of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Papers in Europe PMC - 04Nishimura G4 papers · 2023
Center for Intractable Diseases Iruma-gun, Saitama Medical University Hospital, Saitama, Japan.
Papers in Europe PMC - 05Pang Q4 papers · 2023
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, 100730, China.
Papers in Europe PMC - 06Wang Y4 papers · 2026
Department of Molecular Orthopaedics, National Center for Orthopaedics, Beijing Research Institute of Traumatology and Orthopaedics, Beijing Jishuitan Hospital, Capital Medical University, Beijing 100032, China.
Papers in Europe PMC - 07Xia W4 papers · 2023
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, 100730, China. xiaweibo8301@163.com.
Papers in Europe PMC - 08
- 09Kenis V3 papers · 2026
Pediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Saint-Petersburg, Russia.
Papers in Europe PMC - 10Li J3 papers · 2026
Department of Medicine, McGill University, Montreal, QC, Canada.
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.
Broader category spondyloepiphyseal 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: spondyloepiphyseal 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.
"Spondyloepiphyseal dysplasia congenita" OR "Congenital spondyloepiphyseal dysplasia" OR "Spranger-Wiedemann disease" OR "SED congenita" OR "Spondyloepiphyseal Dysplasia, Congenital" OR "spondyloepiphyseal dysplasia, congenital type"
MeSH descriptor terms unioned into the query: Spondyloepiphyseal dysplasia, congenita
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spondyloepiphyseal dysplasia congenita" OR "Congenital spondyloepiphyseal dysplasia" OR "Spranger-Wiedemann disease" OR "SED congenita" OR "Spondyloepiphyseal Dysplasia, Congenital" OR "spondyloepiphyseal dysplasia, congenital type" OR "Spondyloepiphyseal dysplasia, congenita" OR "COL2A1" OR "COL2A1-related spondyloepiphyseal dysplasia" OR "spondyloepimetaphyseal dysplasia"
Recall-expansion terms: COL2A1, COL2A1-related spondyloepiphyseal dysplasia, spondyloepimetaphyseal dysplasia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"spondyloepiphyseal dysplasia"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SEDC
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 (1454) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T04:37:06.875Z