RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:2636

Microcephalic osteodysplastic primordial dwarfism types I and III

high confidenceDisorder

Also known as: MOPD types I and III · Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type · Primordial microcephalic dwarfism, Crachami type · Taybi-Linder syndrome

Publications

96

47.8th percentile

Trials

1

Interventional, condition-specific

Researchers

769

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, severe, primary bone characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal , low-birth weight and brain anomalies.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type · primordial microcephalic dwarfism, Crachami 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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    96 matched papers (51 in last 10 years) Source

  3. Phenotype characterisedPresent

    174 HPO annotations (e.g. Abnormality of the kidney; Abnormality of the urinary system; Hydronephrosis) 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 trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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)

174

Associated phenotypes · MONDO:0016994

  • Abnormality of the kidney
  • Abnormality of the urinary system
  • Hydronephrosis
  • Microcephaly
  • Prominent occiput

Showing 5 of 174 — 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 2026-07-29

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?

96

96 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=3967) is 59.

96 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).

51 in the last 10 years · high confidence · 47.8th percentile (publications denominator)

Phrase hits: 96 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

769

Distinct author names in 96 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Frilander MJ11 papers · 2026

    Institute of Biotechnology, FI-00014 University of Helsinki, Helsinki, Finland.

    Papers in Europe PMC
  2. 02
    Edery P9 papers · 2026

    "Genetics of Neurodevelopment" Team, Lyon Neuroscience Research Centre, UMR5292 CNRS U1028 Inserm, University of Lyon, F-69500 Bron, France.

    Papers in Europe PMC
  3. 03
    Mazoyer S7 papers · 2026

    "Genetics of Neurodevelopment" Team, Lyon Neuroscience Research Centre, UMR5292 CNRS U1028 Inserm, University of Lyon, F-69500 Bron, France.

    Papers in Europe PMC
  4. 04
    Putoux A7 papers · 2026

    "Genetics of Neurodevelopment" Team, Lyon Neuroscience Research Centre, UMR5292 CNRS U1028 Inserm, University of Lyon, F-69500 Bron, France.

    Papers in Europe PMC
  5. 05
    Besson A6 papers · 2026

    "Genetics of Neurodevelopment" Team, Lyon Neuroscience Research Centre, UMR5292 CNRS U1028 Inserm, University of Lyon, F-69500 Bron, France.

    Papers in Europe PMC
  6. 06
    Delous M5 papers · 2026

    Equipe GENDEV, Centre de Recherche en Neurosciences de Lyon, Inserm U1028, CNRS UMR5292, Université Lyon 1, Université St Etienne, Lyon, France.

    Papers in Europe PMC
  7. 07
    Leutenegger AL5 papers · 2020

    Université de Paris, NeuroDiderot, Inserm, F-75010 Paris, France.

    Papers in Europe PMC
  8. 08
    Padgett RA5 papers · 2022

    Department of Molecular Genetics, Cleveland Clinic, Cleveland, OH, USA. padgetr@ccf.org

    Papers in Europe PMC
  9. 09
    Cuinat S4 papers · 2026

    Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France. Electronic address: silvestre.cuinat@hotmail.fr.

    Papers in Europe PMC
  10. 10
    Isidor B4 papers · 2026

    Service de Génétique Médicale, Unité de génétique Clinique, CHU Hotel Dieu, Nantes Cedex, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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 types I and III — 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 types I and III" OR "MOPD types I and III" OR "Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type" OR "Primordial microcephalic dwarfism, Crachami type" OR "Taybi-Linder syndrome"

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 types I and III" OR "MOPD types I and III" OR "Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type" OR "Primordial microcephalic dwarfism, Crachami type" OR "Taybi-Linder syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Ingested 2026-07-26T20:44:17.577Z