ORPHA:2634
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Also known as: Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
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.
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=183) is 38.
13 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
7 in the last 10 years · high confidence · 26.2th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
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.
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.
- 01Silveira 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 - 02Ahmad B1 paper · 2025
Department of Biochemistry, Abdul Wali Khan University, Mardan, KPK, Pakistan.
Papers in Europe PMC - 03Ain NU1 paper · 2022
School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
Papers in Europe PMC - 04Amor 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 - 05Barone L1 paper · 2014Papers in Europe PMC
- 06Bebin EM1 paper · 2021
Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Papers in Europe PMC - 07Benmerah 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 - 08Bhavani GSL1 paper · 2022
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 09Bibi N1 paper · 2025
Shaheed Benazir Bhutto Women University, Peshawar, Pakistan.
Papers in Europe PMC - 10Blatterer 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
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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 below but are not added to the query string.
"Mesomelic dwarfism, Reinhardt-Pfeiffer type" OR "Reinhardt-Pfeiffer mesomelic dysplasia" OR "Reinhardt-Pfeiffer syndrome"
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.
Cross-references (from Mondo): MESH:C537349 OMIM:191400 UMLS:C1860616
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