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ORPHA:2634

Mesomelic dwarfism, Reinhardt-Pfeiffer type

high confidenceDisorder

Also known as: Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome

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

Publications

13

24.4th percentile

Trials

0

Interventional, condition-specific

Researchers

144

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder characterized by disproportionate short stature from birth with of the ulna and fibula.

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.

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.”

2/6 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

    13 matched papers (7 in last 10 years) Source

  3. Phenotype characterisedPresent

    13 HPO annotations (e.g. Skin dimple; Abnormal morphology of ulna; Synostosis of carpal bones) 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?

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

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

Phenotypes (Monarch / HPO)

13

Associated phenotypes · MONDO:0008618

  • Skin dimple
  • Abnormal morphology of ulna
  • Synostosis of carpal bones
  • Strabismus
  • Micromelia

Showing 5 of 13 — 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 2026-07-27

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?

13

13 papers have ever been indexed 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.

13 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 in the last 10 years · high confidence · 24.4th percentile (publications denominator)

Phrase hits: 13 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

144

Distinct author names in 13 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
    Silveira C2 papers · 2024

    Skeletal Dysplasias Group, Department of Translational Medicine-Area of Medical Genetics, Medical Sciences Faculty, State University of Campinas (UNICAMP), São Paulo, Brazil.

    Papers in Europe PMC
  2. 02
    Ahmad B1 paper · 2025

    Department of Biochemistry, Abdul Wali Khan University, Mardan, KPK, Pakistan.

    Papers in Europe PMC
  3. 03
    Ain NU1 paper · 2022

    School of Biological Sciences, University of the Punjab, Lahore, Pakistan.

    Papers in Europe PMC
  4. 04
    Amor DJ1 paper · 2021

    Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.

    Papers in Europe PMC
  5. 05
    Barone L1 paper · 2014
    Papers in Europe PMC
  6. 06
    Bebin EM1 paper · 2021

    Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

    Papers in Europe PMC
  7. 07
    Benmerah A1 paper · 2022

    Imagine Institute, Laboratory of Inherited Kidney Diseases, Institut National de la Santé et de la Recherche Médicale (INSERM) Unités Mixtes de Recherche (UMR) 1163, Université Paris Cité, Paris, France.

    Papers in Europe PMC
  8. 08
    Bhavani GSL1 paper · 2022

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

    Papers in Europe PMC
  9. 09
    Bibi N1 paper · 2025

    Shaheed Benazir Bhutto Women University, Peshawar, Pakistan.

    Papers in Europe PMC
  10. 10
    Blatterer J1 paper · 2021

    Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria.

    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 9 September 2026 · last trial check 9 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 2026-07-27

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 Mesomelic dwarfism, Reinhardt-Pfeiffer 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.

"Mesomelic dwarfism, Reinhardt-Pfeiffer type" OR "Reinhardt-Pfeiffer mesomelic dysplasia" OR "Reinhardt-Pfeiffer syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Mesomelic dwarfism Reinhardt Pfeiffer type

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

"Mesomelic dwarfism, Reinhardt-Pfeiffer type" OR "Reinhardt-Pfeiffer mesomelic dysplasia" OR "Reinhardt-Pfeiffer syndrome" OR "Mesomelic dwarfism Reinhardt Pfeiffer type"

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

Ingested 2026-07-26T02:07:21.267Z