Das Papillon-Léage-Psaume-Syndrom ist eine x-chromosomal dominante Erkrankung, die durch Mutationen im OFD1-Gen ausgelöst wird. Die Erkrankung gehört in die Gruppe der Ziliopathien und deshalb werden neben den typischen Skelettfehlbildungen auch neuronale und viszerale Entwicklungsstörungen gefunden. Bei männlichen Anlageträgern verläuft die Erkrankung lethal.
Orofaciodigitales Syndrom | ||||
Orofaciodigitales Syndrom 01 | ||||
OFD1 | ||||
Orofaciodigitales Syndrom 04 | ||||
Orofaciodigitales Syndrom 06 | ||||
Orofaciodigitales Syndrom 16 | ||||
Orofaciodigitales Syndrom 9 | ||||
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