Das Schwerhörigkeit - Symphalangie-Syndrom 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im NOG-Gen hervorgerufen wird. Charakteristisch sind verschiedene Synostosen der proximalen Phalangen von Fingern und Zehen, Karpal und Tarsal-Gelenken, humeroradialer Gelenke und den gelenken der Halswirbelsäule sowie auch eine Schallleitungsschwerhörigkeit.
Multiple Synostosen | ||||
Multiple Synostosen 1 | ||||
NOG | ||||
Multiple Synostosen 2 | ||||
NOG | ||||
Syndrom der multiplen Synostosen 3 | ||||
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17. |
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