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ORPHA:171866

Spondyloepimetaphyseal dysplasia, aggrecan type

low confidenceDisorder

Also known as: SEMD, aggrecan type

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

Publications

10,193

Trials

0

Interventional, condition-specific

Researchers

329

Distinct authors in sample

Gene link

ACAN

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Spondyloepimetaphyseal , aggrecan type is a new form of skeletal characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

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 (1)

spondyloepimetaphyseal dysplasia, aggrecan 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 — ACAN

  2. LiteraturePresent

    10,193 matched papers (7,816 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Metaphyseal widening; Brachydactyly; Spondyloepimetaphyseal dysplasia) 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 (ACAN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0013014

  • Metaphyseal widening
  • Brachydactyly
  • Spondyloepimetaphyseal dysplasia
  • Malar flattening
  • Short neck

Showing 5 of 38 — 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?

10,193

10,193 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.

10,193 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).

7,816 in the last 10 years · low confidence

Phrase hits: 50 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

329

Distinct author names in 50 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
    Baron J4 papers · 2017

    Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD. Electronic address: jeffrey.baron@nih.gov.

    Papers in Europe PMC
  2. 02
    Dauber A3 papers · 2015

    Division of Endocrinology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., Cincinnati, OH 45229

    Papers in Europe PMC
  3. 03
    Krakow D3 papers · 2011
    Papers in Europe PMC
  4. 04
    Nilsson O3 papers · 2017

    Program in Developmental Endocrinology and Genetics (O.N., J.C.L., J.B.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Center for Molecular Medicine and Pediatric Endocrinology Unit, Department of Women's and Children's Health (O.N.), Karolinska Institutet and Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Program in Biological and Biomedical Sciences (M.H.G.), Harvard Medical School, Boston, Massachusetts 02115; Connecticut Children's Medical Center (N.D.), Hartford, Connecticut 06106; Children's Hospital of Pittsburgh (J.P., D.F.), University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15224; Division of Endocrinology (M.H.G., C.J., J.N.H., A.D.), Boston Children's Hospital, Boston, Massachusetts 02115; Department of Genetics (M.H.G., J.N.H.), Harvard Medical School, Boston, Massachusetts 02115; and Program in Medical and Population Genetics (J.N.H., A.D.), Broad Institute, Cambridge, Massachusetts 02142.

    Papers in Europe PMC
  5. 05
    Nishimura G3 papers · 2019

    Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu 183-8561, Japan.

    Papers in Europe PMC
  6. 06
    Rimoin DL3 papers · 2011
    Papers in Europe PMC
  7. 07
    Aspberg A2 papers · 2022

    Department of Biology, Copenhagen University, Copenhagen N, Denmark. aaspberg@bio.ku.dk

    Papers in Europe PMC
  8. 08
    Briggs MD2 papers · 2016

    Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, NE1 3BZ, UK. michael.briggs@newcastle.ac.uk.

    Papers in Europe PMC
  9. 09
    Bungartz K2 papers · 2010

    Science Editor, AJHG

    Papers in Europe PMC
  10. 10
    Chiarelli F2 papers · 2022

    Department of Pediatrics, University of Chieti, Chieti, Italy.

    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 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.

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 Spondyloepimetaphyseal dysplasia, aggrecan type — 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.

("Spondyloepimetaphyseal dysplasia, aggrecan type" OR "SEMD, aggrecan type") OR (MESH:"Spondyloepimetaphyseal Dysplasia, Aggrecan Type") OR ("ACAN" OR "ACAN syndrome" OR "ACAN-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spondyloepimetaphyseal Dysplasia, Aggrecan Type

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

"Spondyloepimetaphyseal dysplasia, aggrecan type" OR "SEMD, aggrecan type"

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: 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 (10193) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T08:44:24.556Z