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stapes ankylosis with broad thumb & toes
Genetics:
1) autosomal dominant
2) associated with defects in NOG gene
Clinical manifestations:
1) hyperopia
2) hemicylindrical nose
3) broad thumbs & great toes
4) other minor skeletal anomalies
5) No carpal or tarsal fusion or symphalangism characteristic of other disorders associated with NOG defects
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 184460
References
OMIM :accession 184460