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ORPHA:93357

SPONASTRIME dysplasia

medium confidenceDisorder

Also known as: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · Spondyloepimetaphyseal dysplasia, Sponastrime type

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

448

79.7th percentile

Trials

0

Interventional, condition-specific

Researchers

329

Distinct authors in sample

Gene link

TONSL

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, spondyloepimetaphyseal disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

sponastrime dysplasia · spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia · spondyloepimetaphyseal dysplasia, Sponastrime type · spondyloepimetaphyseal dysplasia, sponastrime 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.

  1. Gene identifiedPresent

    Definitive — TONSL

  2. LiteraturePresent

    448 matched papers (364 in last 10 years) Source

  3. Phenotype characterisedPresent

    123 HPO annotations (e.g. Joint hypermobility; Hypospadias; Epicanthus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (TONSL).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

123

Associated phenotypes · MONDO:0010068

  • Joint hypermobility
  • Hypospadias
  • Epicanthus
  • Microdontia
  • Precocious puberty

Showing 5 of 123 — 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?

448

448 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=3967) is 59.

448 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).

364 in the last 10 years · medium confidence · 79.7th percentile (publications denominator)

Phrase hits: 41 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

329

Distinct author names in 41 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.

  1. 01
    Nishimura G6 papers · 2025

    Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.

    Papers in Europe PMC
  2. 02
    Butler MG3 papers · 2019

    Departments of Psychiatry and Behavioral Sciences and Pediatrics, Kansas University Medical Center, Kansas City, KS 66160, USA.

    Papers in Europe PMC
  3. 03
    Cormier-Daire V3 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
  4. 04
    Girisha KM3 papers · 2025

    Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.

    Papers in Europe PMC
  5. 05
    Hall CM3 papers · 2002

    Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK.

    Papers in Europe PMC
  6. 06
    Krakow 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
  7. 07
    Offiah AC3 papers · 2019

    Department of Oncology and Metabolism, Academic Unit of Child Health, University of Sheffield, Sheffield S10 2TH, UK.

    Papers in Europe PMC
  8. 08
    Savarirayan R3 papers · 2023

    Murdoch Children's Research Institute and University of Melbourne, Parkville, Victoria, Australia.

    Papers in Europe PMC
  9. 09
    Scott CI Jr3 papers · 2008
    Papers in Europe PMC
  10. 10
    Stewart GS3 papers · 2025

    Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham B15 2TT, UK.

    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.

medium 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 SPONASTRIME dysplasia — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("SPONASTRIME dysplasia" OR "Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia" OR "Spondylar and nasal changes with striations of metaphyses (SPONASTRIME) dysplasia" OR "Spondyloepimetaphyseal dysplasia, Sponastrime type" OR "spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia" OR "spondylar and nasal changes with triations of metaphyses (SPONASTRIME) dysplasia") OR (MESH:"Spondyloepimetaphyseal dysplasia, sponastrime type") OR ("TONSL" OR "TONSL syndrome" OR "TONSL-related" OR "SPONASTRIME" OR "SPONASTRIME syndrome" OR "SPONASTRIME-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spondyloepimetaphyseal dysplasia, sponastrime type

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"SPONASTRIME dysplasia" OR "Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia" OR "Spondylar and nasal changes with striations of metaphyses (SPONASTRIME) dysplasia" OR "Spondyloepimetaphyseal dysplasia, Sponastrime type" OR "spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia" OR "spondylar and nasal changes with triations of metaphyses (SPONASTRIME) 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; 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 (448) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T04:18:41.399Z