ORPHA:93317
Spondylometaphyseal dysplasia, Sedaghatian type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
29,398
Trials
0
Interventional, condition-specific
Researchers
126
Distinct authors in sample
Gene link
GPX4
Strong
Readiness
3/6
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.”
3/6 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
29,398 matched papers (27,943 in last 10 years) Source
- Phenotype characterisedPresent
66 HPO annotations (e.g. Short finger; Narrow chest; Short ribs) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
66
Associated phenotypes · MONDO:0009593
- Short finger
- Narrow chest
- Short ribs
- Short phalanx of finger
- Short long bone
Showing 5 of 66 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
29,398
29,398 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
29,398 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
27,943 in the last 10 years · low confidence
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Spondylometaphyseal dysplasia, Sedaghatian type — check Associations / patient organisations on that page.
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") OR (MESH:"Spondylometaphyseal dysplasia, Sedaghatian type") OR ("GPX4" OR "GPX4 syndrome" OR "GPX4-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"spondylometaphyseal dysplasia"
Query health: suspect — strategies attempted: phrase, mesh; 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 (29398) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T04:14:51.845Z