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osteoglophonic dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteoglophonic dysplasia

MONDO:0008150

Also known as:FGFR1-related osteoglophonic dysplasiaOGDosteoglophonic dwarfism

Overview

A rare skeletal disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

GeneticsAutosomal dominant · FGFR1 (chr 8)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Severe short stature, Craniosynostosis, and Malar flattening; and very common findings: Midface retrusion and Growth delay. 57 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	6	Short foot, Camptodactyly of finger, Hypoplastic toenails

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FGFR1 encodes fibroblast growth factor receptor 1 (822 aa). Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Highest expression in Artery Aorta (144.8 TPM) and Ovary (142.9 TPM).

Osteoglophonic dysplasia has limited evidence linking it to mutations in the FGFR1 gene on chromosome 8.

The FGFR1 protein participates in p-8Y- FGFR1 R576W, p-8Y-FGFR1 N546K, and p-8Y-FGFR1 K656E pathways.

FGFR1 is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, Kinase, and Tyrosine Kinase categories) with score 1.1.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Osteoglophonic dysplasia (OGD) should be suspected in probands with the following clinical, imaging, and laboratory findings:

Clinical findings

• Craniofacial

Multisuture craniosynostosis (including cloverleaf skull)
Prominent forehead

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for osteoglophonic dysplasia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for osteoglophonic dysplasia (OGD) have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with OGD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 7. Osteoglophonic Dysplasia: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for osteoglophonic dysplasia.

6 publications have been identified in PubMed for osteoglophonic dysplasia. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (33%), and Gene Therapy / Novel Therapeutics (17%).

Recent Publications

Ascone G (2025). [PMID: 41473314](https://pubmed.ncbi.nlm.nih.gov/41473314/). *bioRxiv*. [Gene Therapy / Novel Therapeutics]
Park YA (2025). [PMID: 41445556](https://pubmed.ncbi.nlm.nih.gov/41445556/). *JBMR Plus*. [Review / Meta-Analysis]
Hartley IR (2025). [PMID: 39755803](https://pubmed.ncbi.nlm.nih.gov/39755803/). *Calcif Tissue Int*. [Review / Meta-Analysis]
Othman AA (2025). [PMID: 40260920](https://pubmed.ncbi.nlm.nih.gov/40260920/). *Am J Med Genet A*. [Case Report / Case Series]
Szoszkiewicz A (2025). [PMID: 40428317](https://pubmed.ncbi.nlm.nih.gov/40428317/). *Genes (Basel)*. [Review / Meta-Analysis]

Data assembled from 8 of 12 sources · Last updated Sep 18, 2026, 3:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:166250

Orphanet

European rare disease database

Orphanet:2645

GARD

Genetic and Rare Diseases Info Center

GARD:4142

Questions for Your Care Team

→Should I pursue genetic testing for FGFR1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Clinical Guidance

Osteoglophonic dysplasia (OGD) is a skeletal dysplasia characterized by multisuture craniosynostosis (including premature fusion of the coronal, sagittal, lambdoid, and metopic sutures), distinctive craniofacial features, unerupted teeth, profound short stature, and multiple cystic bone lesions consistent with non-ossifying fibromas. To date, 24 individuals with OGD from 19 families have been reported and/or identified; of these, 14 individuals have had molecular genetic testing with a pathogenic variant identified in FGFR1 . The remaining ten individuals did not have molecular testing. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Osteoglophonic Dysplasia: Frequency of Select Features

Feature	Proportion of Persons w/Feature	Comment
Non-ossifying fibromas	21/24	Proximal distal femur, distal tibia fibula, iliac bones, proximal humerus, distal radius ulna
Unerupted teeth	20/24	—
Short stature	18/24	—
Multisuture craniosynostosis	17/24	Premature fusion of the coronal, sagittal, lambdoid, metopic sutures
Platyspondyly	10/24	—
Hypophosphatemia	4/24	Mediated by FGF23, a phosphaturic factor
Giant cell granuloma of the jaw	3/24	—
Increased body temperature	2/24	Associated with excessive sweating increased sensitivity to heat
Overlapping toes	2/24	3rd overlapping or underriding 2nd 4th
Pyloric stenosis	2/24	—
Inguinal hernia	2/24	—
Choanal atresia/narrowing	2/24	; ; ; ; ; ; ; ; ; ; ; ; A Othman, H Babcock, and C Ferreira, personal observations Skeletal.

Source: GeneReviews — "Osteoglophonic Dysplasia"

Kisho

osteoglophonic dysplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

FGFR2

Skeletal

Growth deficiency

Development

Craniofacial

Endocrine

Gastrointestinal

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials

osteoglophonic dysplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

FGFR2

Skeletal

Growth deficiency

Development

Craniofacial

Endocrine

Gastrointestinal

Genetic counseling

Clinical Guidance

Therapies Under Investigation

Clinical Trials