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ORPHA:2632

Langer mesomelic dysplasia

medium confidenceDisorder

Also known as: Mesomelic dwarfism, Langer type

Publications

218

65.3th percentile

Trials

2

Interventional, condition-specific

Researchers

1,126

Distinct authors in sample

Gene link

SHOX

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic skeletal characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

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 (4)

Langer syndrome · Langer type mesomelic dysplasia · langer mesomelic dysplasia, pseudoautosomal recessive · mesomelic dwarfism, Langer 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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SHOX

  2. LiteraturePresent

    218 matched papers (93 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov

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 (SHOX).

GenCC classification: Definitive.

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?

218

218 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=5449) is 41.

218 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).

93 in the last 10 years · medium confidence · 65.3th percentile (publications denominator)

Phrase hits: 218 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,126

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Rappold G11 papers · 2012

    Department of Molecular Human Genetics, University of Heidelberg, Heidelberg, Germany. gudrun.rappold@med.uni-heidelberg.de

    Papers in Europe PMC
  2. 02
    Rappold GA10 papers · 2026

    Department of Human Molecular Genetics, Heidelberg University, Heidelberg, Germany gudrun.rappold@med.uni-heidelberg.de.

    Papers in Europe PMC
  3. 03
    Benito-Sanz S9 papers · 2018

    Department of Endocrinology, Hospital Infantil Universitario Nino Jesus, Universidad Autonoma de Madrid, Madrid, Spain.

    Papers in Europe PMC
  4. 04
    Heath KE9 papers · 2018

    Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain ; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain.

    Papers in Europe PMC
  5. 05
    Ogata T8 papers · 2024

    Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

    Papers in Europe PMC
  6. 06
    Cormier-Daire V7 papers · 2019

    Reference Center for Skeletal Dysplasia, AP-HP, Necker-Enfants Malades Hospital, Paris, France.

    Papers in Europe PMC
  7. 07
    Roeth R7 papers · 2026

    Department of Human Molecular Genetics, Heidelberg University, Heidelberg, Germany.

    Papers in Europe PMC
  8. 08
    Aza-Carmona M6 papers · 2017

    Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain ; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain.

    Papers in Europe PMC
  9. 09
    Campos-Barros A6 papers · 2014

    Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain ; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos III, Madrid, Spain.

    Papers in Europe PMC
  10. 10
    Fukami M6 papers · 2024

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: mesomelic 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.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Langer mesomelic dysplasia" OR "Mesomelic dwarfism, Langer type" OR "Langer syndrome" OR "Langer type mesomelic dysplasia" OR "langer mesomelic dysplasia, pseudoautosomal recessive"

Run this search on Europe PMC

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

"Langer mesomelic dysplasia" OR "Mesomelic dwarfism, Langer type" OR "Langer syndrome" OR "Langer type mesomelic dysplasia" OR "langer mesomelic dysplasia, pseudoautosomal recessive" OR "SHOX"

Recall-expansion terms: SHOX

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"mesomelic dysplasia"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (218) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-26T20:43:29.823Z