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ORPHA:33067

Metaphyseal chondrodysplasia, Jansen type

low confidenceDisorder

Publications

3,181

Trials

0

Interventional, condition-specific

Researchers

379

Distinct authors in sample

Gene link

PTH1R

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare skeletal characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

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 (6)

Jansen Type Metaphyseal Chondrodysplasia · Jansen type metaphyseal chondrodysplasia · metaphyseal chondrodysplasia murk Jansen type · metaphyseal chondrodysplasia, Jansen type · metaphyseal chondrodysplasia, murk Jansen type · murk Jansen type metaphyseal chondrodysplasia

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — PTH1R

  2. LiteraturePresent

    3,181 matched papers (2,210 in last 10 years) Source

  3. Phenotype characterisedPresent

    73 HPO annotations (e.g. Metaphyseal chondrodysplasia; Hip contracture; Hypertelorism) 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 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 (PTH1R).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

73

Associated phenotypes · MONDO:0007982

  • Metaphyseal chondrodysplasia
  • Hip contracture
  • Hypertelorism
  • Thick skull base
  • Waddling gait

Showing 5 of 73 — 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?

3,181

3,181 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.

3,181 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).

2,210 in the last 10 years · low confidence

Phrase hits: 69 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

379

Distinct author names in 69 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
    Jüppner H3 papers · 2018

    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC
  2. 02
    Kronenberg HM3 papers · 2019

    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  3. 03
    Philbrick WM3 papers · 1998

    Division of Endocrinology and Metabolism, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06520, USA. william.philbrick@yale.edu

    Papers in Europe PMC
  4. 04
    Amling M2 papers · 1997

    Department of Cell Biology, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

    Papers in Europe PMC
  5. 05
    Baron R2 papers · 1997
    Papers in Europe PMC
  6. 06
    Bianco P2 papers · 2008
    Papers in Europe PMC
  7. 07
    Broadus AE2 papers · 1997
    Papers in Europe PMC
  8. 08
    Chiurazzi P2 papers · 2025

    UOC Genetica Medica, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Gardella TJ2 papers · 2019

    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.

    Papers in Europe PMC
  10. 10
    Grippaudo C2 papers · 2025

    UOC di Clinica Odontoiatrica, Dipartimento di Neuroscienze, Organi di senso e Torace, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy. cristina.grippaudo@unicatt.it.

    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 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 Metaphyseal chondrodysplasia, Jansen type — 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.

("Metaphyseal chondrodysplasia, Jansen type" OR "Jansen Type Metaphyseal Chondrodysplasia" OR "metaphyseal chondrodysplasia murk Jansen type" OR "metaphyseal chondrodysplasia, murk Jansen type" OR "murk Jansen type metaphyseal chondrodysplasia") OR ("PTH1R" OR "PTH1R syndrome" OR "PTH1R-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Metaphyseal chondrodysplasia, Jansen type" OR "Jansen Type Metaphyseal Chondrodysplasia" OR "metaphyseal chondrodysplasia murk Jansen type" OR "metaphyseal chondrodysplasia, murk Jansen type" OR "murk Jansen type metaphyseal chondrodysplasia"

Study-type breakdown: 0 interventional · 0 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
  • Publication count (3181) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T23:31:48.880Z