multiple synostoses syndrome 2

Term ID

DOID:0081318

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/16532400/

References

• GARD:9916
• MIM:610017

Ontology

Human Disease   ( DOID:0081318 )