[Syndrome of symphalangism and stapes fixation: an autosomal dominant hereditary disease (author's transl)].
The autosomal dominant hereditary syndrome of symphalangism and stapes fixation consists of multiple synostoses, most frequently symphalangism, in addition to synostoses of carpal and tarsal bones and radio-ulnar synostoses, various other malformations of the limbs (restricted joint movement or syndactylism) and variable degrees of conduction disorders due to stapes fixation, starting in childhood. A family tree of four successive generations with various forms of the syndrome is described.
D002648:Child; D003937:Diagnosis, Differential; D004429:Ear Ossicles / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D010040:Otosclerosis / Q000175:diagnosis; D010375:Pedigree; D013199:Stapes / Q000002:abnormalities*; D013577:Syndrome; D013580:Synostosis / Q000175:diagnosis / Q000235:genetics*
Symphalangie-Stapesfixation-Syndrom. Eine autosomal dominant erbliche Erkrankung, die klinisch eine "juvenile Otosklerose" imitieren kann.