ORPHA:2645
Osteoglosphonic dysplasia
Also known as: Osteoglophonic dwarfism
Publications
196
69.2th percentile
Trials
0
Interventional, condition-specific
Researchers
3,818
Distinct authors in sample
Gene link
FGFR1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary bone with disorganized development of skeletal components characterized by rhizomelic dwarfism, severe craniofacial dysmorphism including craniosynostosis, acrocephaly, a prominent forehead, midface hypoplasia, hypertelorism, depressed nasal bridge, anteverted nostrils, macroglossia, unerupted teeth. Patients also present with short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. Intelligence is not affected.
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:0008150
- MeSH:C536050
- OMIM:166250
- UMLS:C0432283
Additional Mondo synonyms (4)
FGFR1-related osteoglophonic dysplasia · OGD · osteoglophonic dwarfism · osteoglophonic dysplasia
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 — FGFR1
- LiteraturePresent
196 matched papers (118 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 (FGFR1).
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?
196
196 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.
196 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).
118 in the last 10 years · medium confidence · 69.2th percentile (publications denominator)
Phrase hits: 196 · MeSH hits: 0
Who's working on it?
3,818
Distinct author names in 196 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.
- 01Liu Y9 papers · 2023
Tsinghua Unversity, School of Life Sciences, Beijing, China.
Papers in Europe PMC - 02Quarles LD9 papers · 2019
From the Department of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee 38163 dquarles@uthsc.edu.
Papers in Europe PMC - 03Wang Y8 papers · 2021
Saint Louis University, Department of Biology, Saint Louis, MO, USA.
Papers in Europe PMC - 04White KE8 papers · 2019
Department of Medical and Molecular Genetics, Division of Molecular Genetics and Gene Therapy, Indiana University School of Medicine, Indianapolis, Indiana; smith_rosamund_c@lilly.com kenewhit@iupui.edu.
Papers in Europe PMC - 05
- 06Brandi ML7 papers · 2025
Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
Papers in Europe PMC - 07Fukumoto S7 papers · 2025
Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan.
Papers in Europe PMC - 08Imel EA7 papers · 2025
Department of Medicine and Pediatrics, Endocrinology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Papers in Europe PMC - 09Zhang H7 papers · 2021
Thomas Jefferson University/Vickie & Jack Farber Institute for Neuroscience, Hospital for Neuroscience, Philadelphia, PA, USA.
Papers in Europe PMC - 10Li M6 papers · 2021
Jinan University, College of Life Science and Technology, Department of Biology, Guangzhou, China.
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.
"Osteoglosphonic dysplasia" OR "Osteoglophonic dwarfism" OR "FGFR1-related osteoglophonic dysplasia" OR "osteoglophonic dysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Osteoglosphonic dysplasia" OR "Osteoglophonic dwarfism" OR "FGFR1-related osteoglophonic dysplasia" OR "osteoglophonic dysplasia"
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
Synonyms dropped by stoplist: OGD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T20:45:47.616Z