ORPHA:2637
Microcephalic osteodysplastic primordial dwarfism type II
Also known as: MOPD type II · Majewski osteodysplastic primordial dwarfism type II
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
222
70.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,522
Distinct authors in sample
Gene link
PCNT
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal , abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008872
- MeSH:C565898
- OMIM:210720
- UMLS:C0432246
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — PCNT
- LiteraturePresent
222 matched papers (126 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 trialPartial
None under the specific name; 1 for broader category microcephalic osteodysplastic primordial dwarfism
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 (PCNT).
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?
222
222 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.
222 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).
126 in the last 10 years · high confidence · 70.3th percentile (publications denominator)
Phrase hits: 222 · MeSH hits: 0
Who's working on it?
1,522
Distinct author names in 200 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.
- 01Bober MB16 papers · 2025
Division of Orthogenetics, A.I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
Papers in Europe PMC - 02Duker AL11 papers · 2026
Division of Orthogenetics, A.I. duPont Hospital for Children, Wilmington, DE, 19803, USA.
Papers in Europe PMC - 03Jackson AP8 papers · 2022
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh, Scotland.
Papers in Europe PMC - 04O'Driscoll M7 papers · 2016
Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton BN1 9RQ, UK and m.0-driscoll@sussex.ac.uk p.a.jeggo@sussex.ac.uk melanie.philipp@uni-ulm.de.
Papers in Europe PMC - 05Rauch A6 papers · 2023
Institute of Medical Genetics, University of Zurich Schwerzenbach-Zurich, Switzerland.
Papers in Europe PMC - 06Nishimura G5 papers · 2020
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama 350-0495, Japan.
Papers in Europe PMC - 07Steinberg GK5 papers · 2016
From the Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston (A.C.C., D.G., Z.R., K.F., E.S.R., H.P., D.M.M.); Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L., G.T.W.); Department of Genome Sciences (J.S., M.J.B., D.A.N.) and Department of Pediatrics (M.J.B.), University of Washington, Seattle; Department of Neurosurgery, Stanford University, CA (G.K.S.); and Clinical Innovation and Research Institute, Memorial Hermann Hospital, Houston, TX (J.C.G.).
Papers in Europe PMC - 08
- 09
- 10Jackson A4 papers · 2018
Institute of Genetics & Molecular Medicine, Edinburgh, UK MRC Human Genetics, University of Edinburgh, Edinburgh, UK.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 1 trial are registered for microcephalic osteodysplastic primordial dwarfism, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched microcephalic osteodysplastic primordial dwarfism, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: microcephalic osteodysplastic primordial dwarfism
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06111950·RECRUITING·Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
Conditions: Taybi Linder Syndrome · Microcephalic Osteodysplastic Primordial Dwarfism Types I and III · Roifman Syndrome · Lowry Wood Syndrome·Matched via name phrase
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.
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.
"Microcephalic osteodysplastic primordial dwarfism type II" OR "MOPD type II" OR "Majewski osteodysplastic primordial dwarfism type II"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Microcephalic osteodysplastic primordial dwarfism type II" OR "MOPD type II" OR "Majewski osteodysplastic primordial dwarfism type II" OR "PCNT" OR "primordial dwarfism and slender bone disorder"
Recall-expansion terms: PCNT, primordial dwarfism and slender bone disorder
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"microcephalic osteodysplastic primordial dwarfism"
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 2026-07-26T20:44:39.081Z