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ORPHA:2645

Osteoglosphonic dysplasia

medium confidenceDisorder

Also known as: Osteoglophonic dwarfism

Publications

196

59.4th percentile

Trials

0

Interventional, condition-specific

Researchers

3,818

Distinct authors in sample

Gene link

FGFR1

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

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 — FGFR1

  2. LiteraturePresent

    196 matched papers (118 in last 10 years) Source

  3. Phenotype characterisedPresent

    77 HPO annotations (e.g. Inguinal hernia; Protruding ear; Cryptorchidism) 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 (FGFR1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

77

Associated phenotypes · MONDO:0008150

  • Inguinal hernia
  • Protruding ear
  • Cryptorchidism
  • Choanal atresia
  • Abnormal clavicle morphology

Showing 5 of 77 — 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?

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=3967) is 59.

196 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).

118 in the last 10 years · medium confidence · 59.4th percentile (publications denominator)

Phrase hits: 196 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Liu Y9 papers · 2023

    Tsinghua Unversity, School of Life Sciences, Beijing, China.

    Papers in Europe PMC
  2. 02
    Quarles LD9 papers · 2019

    From the Department of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee 38163 dquarles@uthsc.edu.

    Papers in Europe PMC
  3. 03
    Wang Y8 papers · 2021

    Saint Louis University, Department of Biology, Saint Louis, MO, USA.

    Papers in Europe PMC
  4. 04
    White 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
  5. 05
    Zhang Z8 papers · 2021

    Nanjing University of Chinese Medicine, Nanjing, China.

    Papers in Europe PMC
  6. 06
    Brandi ML7 papers · 2025

    Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.

    Papers in Europe PMC
  7. 07
    Fukumoto S7 papers · 2025

    Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan.

    Papers in Europe PMC
  8. 08
    Imel EA7 papers · 2025

    Department of Medicine and Pediatrics, Endocrinology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

    Papers in Europe PMC
  9. 09
    Zhang H7 papers · 2021

    Thomas Jefferson University/Vickie & Jack Farber Institute for Neuroscience, Hospital for Neuroscience, Philadelphia, PA, USA.

    Papers in Europe PMC
  10. 10
    Li 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 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.

medium 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 Osteoglosphonic dysplasia — 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.

"Osteoglosphonic dysplasia" OR "Osteoglophonic dwarfism" OR "FGFR1-related osteoglophonic dysplasia" OR "osteoglophonic dysplasia"

Run this search on Europe PMC

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