multiple synostoses syndrome 3

Term ID

DOID:0081319

Synonyms

Definition

A multiple synostoses syndrome that 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 FGF9 gene on chromosome 13q12. https://pubmed.ncbi.nlm.nih.gov/28730625/

References

• OMIM:612961

Ontology

Human Disease   ( DOID:0081319 )