ORPHA:93317
Spondylometaphyseal dysplasia, Sedaghatian type
Publications
18
27.5th percentile
Trials
0
Interventional, condition-specific
Researchers
126
Distinct authors in sample
Gene link
GPX4
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare spondylodysplastic characterized by severe , spondylometaphyseal , cardiac arrhythmia, and central nervous system anomalies leading to death in the first days of life due to cardiorespiratory failure. Skeletal anomalies include irregular appearance of the iliac crest and bone, abnormal long bones of the extremities (including shortening, widening and cupping), and increased intervertebral disc space. Visceral anomalies include subendocardial myocarditis, myocardial necrosis, adrenal and pulmonary hemorrhage. Cranial magnetic resonance imaging reveals intracranial abnormalities such as simplified gyral pattern, hypogenesis of the corpus callosum, and cerebellar hypoplasia.
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:0009593
- MeSH:C535798
- OMIM:250220
- UMLS:C1855229
Additional Mondo synonyms (1)
spondylometaphyseal dysplasia, Sedaghatian 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
Strong — GPX4
- LiteraturePresent
18 matched papers (10 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 (GPX4).
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?
18
18 papers have ever been indexed 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.
18 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).
10 in the last 10 years · high confidence · 27.5th percentile (publications denominator)
Phrase hits: 18 · MeSH hits: 0
Who's working on it?
126
Distinct author names in 18 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.
- 01Nishimura G4 papers · 2023
Department of Radiology, Tokyo Metropolitan Kiyose Children’s Hospital, Kiyose, Tokyo, Japan
Papers in Europe PMC - 02Cohn DH3 papers · 2023
Medical Genetics Research Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA
Papers in Europe PMC - 03Krakow D3 papers · 2023
Departments of Obstetrics and Gynecology, Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Papers in Europe PMC - 04Superti-Furga A3 papers · 2023
Centrer for Pediatrics and Adolescent Medicine, University of Freiberg, Freiberg, Germany
Papers in Europe PMC - 05Unger S3 papers · 2023
Centrer for Pediatrics and Adolescent Medicine, University of Freiberg, Freiberg, Germany
Papers in Europe PMC - 06Cormier-Daire V2 papers · 2023
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Papers in Europe PMC - 07Hall C2 papers · 2023
Emerita Consultant Paediatric Radiologist at Great Ormond Street Childrens' Hospital, London, UK.
Papers in Europe PMC - 08Ikegawa S2 papers · 2017
Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Minato-ku, Tokyo, Japan
Papers in Europe PMC - 09Lachman RS2 papers · 2015
International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles, California.
Papers in Europe PMC - 10Mundlos S2 papers · 2023
Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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 spondylometaphyseal 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: spondylometaphyseal 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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Spondylometaphyseal dysplasia, Sedaghatian type"
MeSH descriptor terms unioned into the query: Spondylometaphyseal dysplasia, Sedaghatian type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spondylometaphyseal dysplasia, Sedaghatian type" OR "GPX4" OR "severe spondylodysplastic dysplasia" OR "spondylodysplastic dysplasia"
Recall-expansion terms: GPX4, severe spondylodysplastic dysplasia, spondylodysplastic dysplasia
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"spondylometaphyseal dysplasia"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T04:14:51.845Z