multiple synostoses syndrome

Genetics

• autosomal dominant
• associated with defects in NOG gene (type 1)
• associated with defects in GDF5 (type 2)
• associated with defects in FGF9 (type 3)

Clinical manifestations

• progressive joint fusions of the fingers, wrists, ankles & cervical spine, characteristic facies & progressive conductive deafness

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

More specific terms

• multiple synostoses syndrome 1 (SYNS1); synostoses, multiple, with brachydactyly; symphalangism-brachydactyly syndrome

Additional terms

• synostosis

Database

• OMIM: https://mirror.omim.org/entry/610017
• OMIM: https://mirror.omim.org/entry/612961