syndactyly type 8

Term ID

DOID:0111813

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/23709756

References

• GARD:3559
• MESH:C564100
• OMIM:309630
• ORDO:2498
• SNOMEDCT_US_2023_03_01:715442006
• UMLS_CUI:C1839728

Ontology

Human Disease   ( DOID:0111813 )