multiple synostoses syndrome

Summary
Definition
A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion.
Super Class
autosomal dominant disease dysostosis
Disease Ontology
DOID:0050794
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2254 FGF9 fibroblast growth factor 9
8200 GDF5 growth differentiation factor 5
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14180 Fgf9 fibroblast growth factor 9
14563 Gdf5 growth differentiation factor 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
25444 Fgf9 fibroblast growth factor 9

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024