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ORPHA:174

Metaphyseal chondrodysplasia, Schmid type

low confidenceDisorder

Also known as: MDSC · SMCD

Publications

6,041

Trials

0

Interventional, condition-specific

Researchers

1,235

Distinct authors in sample

Gene link

COL10A1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

MCDS · Metaphyseal Chondrodysplasia, Schmid Type · metaphyseal chondrodysplasia Schmid type · metaphyseal chondrodysplasia, Schmid type · spondylometaphyseal dysplasia, Japanese 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.”

5/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — COL10A1

  2. LiteraturePresent

    6,041 matched papers (4,175 in last 10 years) Source

  3. Phenotype characterisedPresent

    60 HPO annotations (e.g. Short stature; Short distal phalanx of finger; Abnormal proximal femoral metaphysis morphology) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. carbamazepine 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 (COL10A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

60

Associated phenotypes · MONDO:0007983

  • Short stature
  • Short distal phalanx of finger
  • Abnormal proximal femoral metaphysis morphology
  • Scoliosis
  • Platyspondyly

Showing 5 of 60 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA carbamazepineTreatment of metaphyseal chondrodysplasia, Schmid type · 14/10/2016 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

6,041

6,041 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.

6,041 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).

4,175 in the last 10 years · low confidence

Phrase hits: 468 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,235

Distinct author names in 200 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
    Wang Y11 papers · 2026

    Department of Pediatric Orthopedics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China.

    Papers in Europe PMC
  2. 02
    Lu Y8 papers · 2026

    Department of Laboratory Medicine, School of Medicine, Jiangsu University Zhenjiang 212013, Jiangsu, China.

    Papers in Europe PMC
  3. 03
    Li J7 papers · 2026

    Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China.

    Papers in Europe PMC
  4. 04
    Liu X6 papers · 2026

    Department of Pediatrics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang City, Jiangxi Province, China. liuxijuan9@163.com.

    Papers in Europe PMC
  5. 05
    Zhang H6 papers · 2026

    Beijing Institute of Basic Medical Sciences, 27 Taiping Road, Beijing 100850, P.R. China.

    Papers in Europe PMC
  6. 06
    Zhang Z6 papers · 2026

    Division of Spine Surgery, Department of Orthopaedics, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  7. 07
    Li S5 papers · 2026

    Department of Orthopedics, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang City, Jiangxi Province, China.

    Papers in Europe PMC
  8. 08
    Li W5 papers · 2026

    Reproductive Medicine Center, The Seventh Affiliated Hospital Sun Yat-sen University, Shenzhen, China.

    Papers in Europe PMC
  9. 09
    Li X5 papers · 2026

    The First Hospital of China Medical University, Shenyang 110000, P.R. China.

    Papers in Europe PMC
  10. 10
    Li Y5 papers · 2026

    Department of Gerontology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.

    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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (1)

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 Metaphyseal chondrodysplasia, Schmid 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.

("Metaphyseal chondrodysplasia, Schmid type" OR "metaphyseal chondrodysplasia Schmid type" OR "spondylometaphyseal dysplasia, Japanese type") OR ("COL10A1" OR "COL10A1 syndrome" OR "COL10A1-related")

Run this search on Europe PMC

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

"Metaphyseal chondrodysplasia, Schmid type" OR "metaphyseal chondrodysplasia Schmid type" OR "spondylometaphyseal dysplasia, Japanese type"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MDSC; SMCD; MCDS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (6041) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:45:17.798Z