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ORPHA:50945

Blomstrand lethal chondrodysplasia

low confidenceDisorder

Also known as: BLC · BOCD · Blomstrand chondrodysplasia · Blomstrand osteochondrodysplasia · Chondrodysplasia, Blomstrand type

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

3,178

Trials

0

Interventional, condition-specific

Researchers

584

Distinct authors in sample

Gene link

PTH1R

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Blomstrand lethal chondrodysplasia (BLC) is a osteosclerotic characterized by advanced endochondral bone maturation, very short limbs, dwarfism and lethality.

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)

Blomstrand type chondrodysplasia · chondrodysplasia, Blomstrand 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

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

    3,178 matched papers (2,204 in last 10 years) Source

  3. Phenotype characterisedPresent

    56 HPO annotations (e.g. Anteverted nares; Cataract; Proptosis) 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)

56

Associated phenotypes · MONDO:0008970

  • Anteverted nares
  • Cataract
  • Proptosis
  • Natal tooth
  • Short ribs

Showing 5 of 56 — 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?

3,178

3,178 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.

3,178 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).

2,204 in the last 10 years · low confidence

Phrase hits: 106 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

584

Distinct author names in 106 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 H11 papers · 2026

    Mayo Clinic (B.L.C.), Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, Minnesota 55905; Harvard Medical School (E.M.B.), Division of Endocrinology, Diabetes and Hypertension, Boston, Massachusetts 02115; Skeletal Clinical Studies Unit (M.T.C.), Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; Endocrine Unit and Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; First Department of Medicine (P.L.), Semmelweis University Medical School, Budapest 1085, Hungary; Division of Endocrinology and Diabetes (M.A.L.), Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; Massachusetts General Hospital (M.M.M.), Boston, Massachusetts 02114; Columbia University College of Physicians & Surgeons (J.P.B.), New York, New York 10032; Department of Hospital Surgery and Oncology of St Petersburg State Pediatric Medical Academy (A.F.R.), St. Petersburg 194100, Russia; and Academic Endocrine Unit (R.V.T.), Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, United Kingdom.

    Papers in Europe PMC
  2. 02
    Gardella TJ8 papers · 2026

    Endocrine Unit, Massachusetts General Hospital, Boston, Massachusetts (T.J.G.); and Laboratory for GPCR Biology, Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania (J.-P.V.) Gardella@Helix.MGH.Harvard.edu.

    Papers in Europe PMC
  3. 03
    Silve C6 papers · 2012

    INSERM U986, Centre de Référence des Maladies Rares du Métabolisme phospho-calcique, Faculté de Médecine, Université Paris-Sud , Le Kremlin Bicêtre, France ; Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat Claude Bernard , Paris, France.

    Papers in Europe PMC
  4. 04
    Höppner J4 papers · 2026

    Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, United States.

    Papers in Europe PMC
  5. 05
    Kronenberg HM4 papers · 2025

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

    Papers in Europe PMC
  6. 06
    Schipani E4 papers · 2025

    Department of Orthopedic Surgery, University of Pennsylvania, Perelman Medical School, Philadelphia, PA 19104.

    Papers in Europe PMC
  7. 07
    Baron J3 papers · 2017

    Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, MSC-1103, Bethesda, MD 20892, USA.

    Papers in Europe PMC
  8. 08
    Chiurazzi P3 papers · 2025

    Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy. pietro.chiurazzi@unicatt.it.

    Papers in Europe PMC
  9. 09
    Collins MT3 papers · 2025

    Mayo Clinic (B.L.C.), Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, Minnesota 55905; Harvard Medical School (E.M.B.), Division of Endocrinology, Diabetes and Hypertension, Boston, Massachusetts 02115; Skeletal Clinical Studies Unit (M.T.C.), Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; Endocrine Unit and Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; First Department of Medicine (P.L.), Semmelweis University Medical School, Budapest 1085, Hungary; Division of Endocrinology and Diabetes (M.A.L.), Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; Massachusetts General Hospital (M.M.M.), Boston, Massachusetts 02114; Columbia University College of Physicians & Surgeons (J.P.B.), New York, New York 10032; Department of Hospital Surgery and Oncology of St Petersburg State Pediatric Medical Academy (A.F.R.), St. Petersburg 194100, Russia; and Academic Endocrine Unit (R.V.T.), Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, United Kingdom.

    Papers in Europe PMC
  10. 10
    Couvineau A3 papers · 2008

    INSERM U773, Centre de Recherche Biomédicale Bichat Beaujon, Paris, France.

    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.

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 Blomstrand lethal chondrodysplasia — 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.

("Blomstrand lethal chondrodysplasia" OR "Blomstrand chondrodysplasia" OR "Blomstrand osteochondrodysplasia" OR "Chondrodysplasia, Blomstrand type" OR "Blomstrand type chondrodysplasia") OR (MESH:"Chondrodysplasia, blomstrand type") OR ("PTH1R" OR "PTH1R syndrome" OR "PTH1R-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Chondrodysplasia, blomstrand type

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

"Blomstrand lethal chondrodysplasia" OR "Blomstrand chondrodysplasia" OR "Blomstrand osteochondrodysplasia" OR "Chondrodysplasia, Blomstrand type" OR "Blomstrand type chondrodysplasia"

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

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: BLC; BOCD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3178) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T00:45:51.838Z