ORPHA:50945
Blomstrand lethal chondrodysplasia
Also known as: BLC · BOCD · Blomstrand chondrodysplasia · Blomstrand osteochondrodysplasia · Chondrodysplasia, Blomstrand type
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
106
54.3th percentile
Trials
0
Interventional, condition-specific
Researchers
584
Distinct authors in sample
Gene link
PTH1R
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008970
- MeSH:C537914
- OMIM:215045
- UMLS:C1859148
- NCIT:C131420
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.”
2/6 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.
- Gene identifiedPresent
Definitive — PTH1R
- LiteraturePresent
106 matched papers (53 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 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)
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?
106
106 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.
106 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).
53 in the last 10 years · medium confidence · 54.3th percentile (publications denominator)
Phrase hits: 106 · MeSH hits: 0
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.
- 01Jüppner 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 - 02Gardella 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 - 03Silve 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 - 04Höppner J4 papers · 2026
Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, United States.
Papers in Europe PMC - 05Kronenberg HM4 papers · 2025
Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 06Schipani E4 papers · 2025
Department of Orthopedic Surgery, University of Pennsylvania, Perelman Medical School, Philadelphia, PA 19104.
Papers in Europe PMC - 07Baron 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 - 08Chiurazzi 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 - 09Collins 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 - 10Couvineau 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 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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Blomstrand lethal chondrodysplasia" OR "Blomstrand chondrodysplasia" OR "Blomstrand osteochondrodysplasia" OR "Chondrodysplasia, Blomstrand type" OR "Blomstrand type chondrodysplasia"
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" OR "PTH1R"
Recall-expansion terms: PTH1R
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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
Ingested 2026-07-27T00:45:51.838Z