multiple synostoses syndrome 1

Summary
Definition
A multiple synostoses syndrome is 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 and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.
Super Class
multiple synostoses syndrome
Disease Ontology
DOID:0081317
Mondo Disease Ontology
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
8200 GDF5 growth differentiation factor 5
9241 NOG noggin
Related Glycoprotein

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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: August 4, 2025