syndactyly type 8

Summary
Synonym
  • fusion of metacarpals 4 and 5
  • metacarpal 4-5 fusion
Definition
A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1.
Super Class
X-linked recessive disease syndactyly
External Links
Disease Ontology
DOID:0111813
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8823 FGF16 fibroblast growth factor 16
Displaying 1 entry
Gene ID Gene Symbol Description Source
80903 Fgf16 fibroblast growth factor 16
Displaying 1 entry
Gene ID Gene Symbol Description Source
60464 Fgf16 fibroblast growth factor 16

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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 19, 2024