ORPHA:2021
Fibrochondrogenesis
Publications
247
74.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,129
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, rhizo-mesomelic characterized by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the period persents with severe global , severe skeletal , high myopia and mild to moderate hearing loss.
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:0016068
- MeSH:C562524
- UMLS:C0265282
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
247 matched papers (153 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
247
247 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.
247 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).
153 in the last 10 years · medium confidence · 74.3th percentile (publications denominator)
Phrase hits: 247 · MeSH hits: 0
Who's working on it?
1,129
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.
- 01Wang X7 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 02Cook JL6 papers · 2016
Comparative Orthopaedic Laboratory, University of Missouri , Columbia, MO , USA.
Papers in Europe PMC - 03Fox DB6 papers · 2014
University of Missouri, Comparative Orthopaedic Laboratory, Columbia, MO, USA. foxdb@missouri.edu
Papers in Europe PMC - 04Oxford JT6 papers · 2025
Department of Biological Sciences, Center of Biomedical Research Excellence in Matrix Biology, Boise State University, Boise, Idaho, USA.
Papers in Europe PMC - 05Warnock JJ6 papers · 2014
College of Veterinary Medicine, Oregon State University , Corvallis, OR , United States.
Papers in Europe PMC - 06Zhang X6 papers · 2025
State Key Laboratory of Metal Matrix Composites, School of Materials Science and Engineering, Shanghai Jiao Tong University, Shanghai, 200240, China.
Papers in Europe PMC - 07Cohn DH5 papers · 2023
Medical Genetics Research Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA
Papers in Europe PMC - 08Krakow D5 papers · 2023
Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA; Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, BSRB/OHRC 615 Charles E. Young Drive South, Room 410, Los Angeles, CA 90095, USA. Electronic address: dkrakow@mednet.ucla.edu.
Papers in Europe PMC - 09Li H5 papers · 2025
State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Department of Pediatric Dentistry, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan 610041, China.
Papers in Europe PMC - 10Richards AJ5 papers · 2022
Department of Pathology, University of Cambridge, Cambridge, 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 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.
"Fibrochondrogenesis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fibrochondrogenesis"
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T18:45:49.442Z