proximal symphalangism

Summary
Synonym
  • Cushing's symphalangism
Definition
A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
Super Class
autosomal dominant disease bone disease syndrome
Disease Ontology
DOID:0050788
Mondo Disease Ontology
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9241 NOG noggin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q13253 Noggin

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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