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ORPHA:2637

Microcephalic osteodysplastic primordial dwarfism type II

low confidenceDisorder

Also known as: MOPD type II · Majewski osteodysplastic primordial dwarfism type II

Publications

1,620

Trials

0

Interventional, condition-specific

Researchers

1,522

Distinct authors in sample

Gene link

PCNT

Definitive

Readiness

5/6

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.

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — PCNT

  2. LiteraturePresent

    1,620 matched papers (1,177 in last 10 years) Source

  3. Phenotype characterisedPresent

    103 HPO annotations (e.g. Sensorineural hearing impairment; Underdeveloped nasal alae; Abnormal metaphysis morphology) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

103

Associated phenotypes · MONDO:0008872

  • Sensorineural hearing impairment
  • Underdeveloped nasal alae
  • Abnormal metaphysis morphology
  • Dry skin
  • Hypopigmented skin patches

Showing 5 of 103 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

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?

1,620

1,620 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,620 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).

1,177 in the last 10 years · low confidence

Phrase hits: 222 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Bober MB16 papers · 2025

    Division of Orthogenetics, A.I. duPont Hospital for Children, Wilmington, DE, 19803, USA.

    Papers in Europe PMC
  2. 02
    Duker AL11 papers · 2026

    Division of Orthogenetics, A.I. duPont Hospital for Children, Wilmington, DE, 19803, USA.

    Papers in Europe PMC
  3. 03
    Jackson 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
  4. 04
    O'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
  5. 05
    Rauch A6 papers · 2023

    Institute of Medical Genetics, University of Zurich Schwerzenbach-Zurich, Switzerland.

    Papers in Europe PMC
  6. 06
    Nishimura 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
  7. 07
    Steinberg 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
  8. 08
    Chen R4 papers · 2026

    Personalis Inc., Menlo Park, California 94025.

    Papers in Europe PMC
  9. 09
    Doxsey S4 papers · 2019

    University of Massachusetts, Boston, USA.

    Papers in Europe PMC
  10. 10
    Jackson 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 11 September 2026 · last trial check 11 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.

low 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.

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

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

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 2026-07-29

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 Microcephalic osteodysplastic primordial dwarfism type II — 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.

("Microcephalic osteodysplastic primordial dwarfism type II" OR "MOPD type II" OR "Majewski osteodysplastic primordial dwarfism type II") OR ("PCNT" OR "PCNT syndrome" OR "PCNT-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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
  • Publication count (1620) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T20:44:39.081Z