stapes ankylosis with broad thumb & toes

Genetics

• autosomal dominant
• associated with defects in NOG gene

Clinical manifestations

• hyperopia
• hemicylindrical nose
• broad thumbs & great toes
• other minor skeletal anomalies
• No carpal or tarsal fusion or symphalangism characteristic of other disorders associated with NOG defects

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/184460