ORPHA:370015
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Also known as: SEMDIST · Spondyloepimetaphyseal dysplasia with severe short stature
Publications
12
27.5th percentile
Trials
0
Interventional, condition-specific
Researchers
134
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary bone disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial 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:0018254
- UMLS:C5190629
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
12 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
12
12 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.
12 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: 12 · MeSH hits: 0
Who's working on it?
134
Distinct author names in 12 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.
- 01Baud'huin M2 papers · 2025
Nantes Université, CHU Nantes, INSERM, Bone sarcomas and remodeling of calcified tissues, UMR 1238, F-44000 Nantes, France. Electronic address: marc.baudhuin@univ-nantes.fr.
Papers in Europe PMC - 02Da Costa L2 papers · 2024
AP-HP, Service d'Hématologie Biologique, Hôpital Robert Debré, Paris, France.
Papers in Europe PMC - 03Gleizes PE2 papers · 2024
MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France.
Papers in Europe PMC - 04O'Donohue MF2 papers · 2024
MCD, Centre de Biologie Intégrative, Université de Toulouse, CNRS, UPS, Toulouse, France.
Papers in Europe PMC - 05Reis A2 papers · 2017
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Papers in Europe PMC - 06Šmuc T2 papers · 2019
Division of Electronics, Rudjer Boskovic Institute, 10000, Zagreb, Croatia.
Papers in Europe PMC - 07Supek F2 papers · 2019
Genome Data Science, Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028, Barcelona, Spain. fran.supek@irbbarcelona.org.
Papers in Europe PMC - 08Abe E1 paper · 2022
Department of Neurology, National Hospital Organization Akita National Hospital, Yurihonjo, Japan.
Papers in Europe PMC - 09Akimova D1 paper · 2025
Research Centre for Medical Genetics, Moskvorechye St., 1, 115522 Moscow, Russia.
Papers in Europe PMC - 10Asavoaie C1 paper · 2020
Children's Emergency Clinical Hospital Cluj-Napoca, Cluj-Napoca, Romania.
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.
Broader category spondyloepimetaphyseal 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: spondyloepimetaphyseal 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.
"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type" OR "SEMDIST" OR "Spondyloepimetaphyseal dysplasia with severe short stature"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type" OR "SEMDIST" OR "Spondyloepimetaphyseal dysplasia with severe short stature"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"spondyloepimetaphyseal dysplasia"
Query health: ok — strategies attempted: phrase; 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 2026-07-27T14:52:44.486Z