ORPHA:40
Acromesomelic dysplasia, Maroteaux type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
84
57.5th percentile
Trials
0
Interventional, condition-specific
Researchers
562
Distinct authors in sample
Gene link
NPR2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare acromesomelic characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic , Grebe type and acromesomelic , Hunter-Thomson type .
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011275
- MeSH:C535661
- OMIM:602875
- UMLS:C1864356
Additional Mondo synonyms (2)
acromesomelic dysplasia 1, Maroteaux type · acromesomelic dysplasia, Maroteaux 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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — NPR2
- LiteraturePresent
84 matched papers (61 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (NPR2).
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?
84
84 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.
84 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).
61 in the last 10 years · high confidence · 57.5th percentile (publications denominator)
Phrase hits: 84 · MeSH hits: 0
Who's working on it?
562
Distinct author names in 84 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.
- 01Espiner EA5 papers · 2022
Department of Medicine, University of Otago, Christchurch 8011, New Zealand.
Papers in Europe PMC - 02Olney RC5 papers · 2015
Division of Endocrinology, Nemours Children's Clinic, Jacksonville, FL 32207, USA. rolney@nemours.org
Papers in Europe PMC - 03Potter LR4 papers · 2021
Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, United States.
Papers in Europe PMC - 04Warman ML4 papers · 2015Papers in Europe PMC
- 05Ahmad W3 papers · 2023
Department of Biochemistry, Quaid-I-Azam University, Islamabad 45320, Pakistan.
Papers in Europe PMC - 06Jee YH3 papers · 2019
Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, CRC, Room 1-3330, 10 Center Drive MSC 1103, Bethesda, MD 20892-1103, USA. Electronic address: jeeyh@mail.nih.gov.
Papers in Europe PMC - 07Legeai-Mallet L3 papers · 2021
Imagine Institute, Inserm U1163, Université Paris Descartes, Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Papers in Europe PMC - 08Prickett TC3 papers · 2015Papers in Europe PMC
- 09Robinson JW3 papers · 2021
Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, United States.
Papers in Europe PMC - 10Wang L3 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Broader category acromesomelic dysplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: acromesomelic 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.
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 on the overview but are not added to the query string.
"Acromesomelic dysplasia, Maroteaux type" OR "acromesomelic dysplasia 1, Maroteaux type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acromesomelic dysplasia, Maroteaux type" OR "acromesomelic dysplasia 1, Maroteaux type" OR "NPR2"
Recall-expansion terms: NPR2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"acromesomelic dysplasia"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T12:11:51.029Z