multiple synostoses syndrome 2

Summary
Definition
A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
Super Class
multiple synostoses syndrome
Disease Ontology
DOID:0081318
Mondo Disease Ontology
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8200 GDF5 growth differentiation factor 5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P43026 Growth/differentiation factor 5

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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: April 7, 2025