multiple synostoses syndrome 1

Term ID

DOID:0081317

Synonyms

Definition

A multiple synostoses syndrome 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 NOG gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/11846737/

References

• GARD:3836
• OMIM:186500

Ontology

Human Disease   ( DOID:0081317 )