Das Orofaciodigitales Syndrom gehört in die Gruppe der Ziliopathien, die durch Entwicklungsstörungen gekennzeichnet ist. Deshalb findet sich ein weites Spektrum an Malformationen, die neben dem Skelettsystem auch das Nervensystem und verschiedene innere Organe (Nieren, Pankreas und Ovarien) betreffen können.
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Orphanet article Orphanet ID 140997 |