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ORPHA:178355

Smith-McCort dysplasia

high confidenceDisorder

Publications

64

44.3th percentile

Trials

0

Interventional, condition-specific

Researchers

428

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Smith-McCort (SMC) is a rare spondylo-epi-metaphyseal characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.

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.

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    64 matched papers (38 in last 10 years) Source

  3. Phenotype characterisedPresent

    56 HPO annotations (e.g. Deformed sella turcica; Short metacarpal; Intellectual disability) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

56

Associated phenotypes · MONDO:0015799

  • Deformed sella turcica
  • Short metacarpal
  • Intellectual disability
  • Atlantoaxial instability
  • Microcephaly

Showing 5 of 56 — 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)

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?

64

64 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.

64 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).

38 in the last 10 years · high confidence · 44.3th percentile (publications denominator)

Phrase hits: 64 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

428

Distinct author names in 64 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
    Cohn DH4 papers · 2023

    Medical Genetics-Birth Defects Center, Ahmanson Department of Pediatrics, Cedars-Sinai Research Institute and Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90048, USA. dan.cohn@cshs.org

    Papers in Europe PMC
  2. 02
    Cormier-Daire V4 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
  3. 03
    Girisha KM4 papers · 2023

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

    Papers in Europe PMC
  4. 04
    Simpson JC4 papers · 2026

    School of Biology and Environmental Science & Conway Institute of Biomolecular and Biomedical Research, University College Dublin (UCD), D04 N2E5 Dublin, Ireland. jeremy.simpson@ucd.ie.

    Papers in Europe PMC
  5. 05
    Unger S4 papers · 2023

    Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  6. 06
    Bhavani GS3 papers · 2023

    Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

    Papers in Europe PMC
  7. 07
    Ehtesham N3 papers · 2005

    Medical Genetics-Birth Defects Center, Ahmanson Department of Pediatrics, Cedars-Sinai Research Institute, Los Angeles, CA 90048, USA.

    Papers in Europe PMC
  8. 08
    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
  9. 09
    Nishimura G3 papers · 2023

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

    Papers in Europe PMC
  10. 10
    Rimoin DL3 papers · 2011
    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.

high 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 Smith-McCort 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.

"Smith-McCort dysplasia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Smith-McCort Dysplasia

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

"Smith-McCort dysplasia"

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

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

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 2026-07-27T08:49:34.121Z