ORPHA:93349
X-linked spondyloepimetaphyseal dysplasia
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
23
36.4th percentile
Trials
0
Interventional, condition-specific
Researchers
191
Distinct authors in sample
Gene link
BGN
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic primary bone disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.
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:0010248
- MeSH:C564714
- OMIM:300106
- UMLS:C1848097
Additional Mondo synonyms (2)
spondyloepimetaphyseal dysplasia, X-linked · spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive
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
Strong — BGN
- LiteraturePresent
23 matched papers (19 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 (BGN).
GenCC classification: Strong.
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?
23
23 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.
23 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).
19 in the last 10 years · high confidence · 36.4th percentile (publications denominator)
Phrase hits: 23 · MeSH hits: 0
Who's working on it?
191
Distinct author names in 23 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.
- 01Badonyi M2 papers · 2025
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. mihaly.badonyi@ed.ac.uk.
Papers in Europe PMC - 02Marsh JA2 papers · 2025
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. joseph.marsh@ed.ac.uk.
Papers in Europe PMC - 03Meester JAN2 papers · 2024
Laboratory of Cardiogenetics, Center of Medical Genetics, University Hospital Antwerp, University of Antwerp, Antwerp, Belgium.
Papers in Europe PMC - 04Mizumoto S2 papers · 2021
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
Papers in Europe PMC - 05
- 06Yamada S2 papers · 2021
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
Papers in Europe PMC - 07Andrews A1 paper · 2025
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, 84112, USA.
Papers in Europe PMC - 08Ashcroft K1 paper · 2024
Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals, NHS Foundation Trust, Leeds, UK.
Papers in Europe PMC - 09Atwal PS1 paper · 2024
Genomic and Personalized Medicine, Atwal Clinic, Palm Beach, FL, USA.
Papers in Europe PMC - 10Bae JS1 paper · 2016
Samsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
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.
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.
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.
"X-linked spondyloepimetaphyseal dysplasia" OR "spondyloepimetaphyseal dysplasia, X-linked" OR "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive"
MeSH descriptor terms unioned into the query: Spondyloepimetaphyseal Dysplasia, X-Linked
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked spondyloepimetaphyseal dysplasia" OR "spondyloepimetaphyseal dysplasia, X-linked" OR "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive" OR "BGN" OR "spondyloepiphyseal dysplasia"
Recall-expansion terms: BGN, spondyloepiphyseal dysplasia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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
Ingested 2026-07-27T04:18:00.544Z