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Article

New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.

American journal of medical genetics. Part A - 1 Sept 2025

Othman Amna A, Babcock Holly E, Gill Corey S, Fraser Jamie L, Regier Debra S, Kaur Rajdeep, Simpson Kara L, Ferreira Carlos R

Abstract excerpt

Osteoglophonic dysplasia (OGD) is a rare skeletal disorder caused by certain variants in FGFR1. The FGFR1 gene encodes a receptor vital for osteogenesis in the axial and craniofacial skeleton. Key OGD features include craniosynostosis, craniofacial dysmorphism, impacted teeth, rhizomelic shortening, and nonossifying fibromas. Patients may have hypophosphatemia due to high FGF23 levels. We report two OGD patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 1

Source

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Identifiers

PMID: 40260920
DOI: 10.1002/ajmg.a.64092
PMCID: PMC12339206

Genes

FGFR1
FGF23

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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