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Orofaciodigitales Syndrom

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.

Gliederung

Angeborene Skelettfelbildungen
Al-Gazali-Bakalinova-Syndrom
Brachydaktylie
Branchio-okulo-faziales Syndrom
Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel
Hydrolethalus 2
Kongenitale Kontraktur-Arachnodaktylie
Lakrimo-aurikulo-dento-digitales Syndrom
Lippen-Kiefer-Gaumenspalte 11
Multiple Synostosen
Orofaciodigitales Syndrom
Orofaciodigitales Syndrom 01
OFD1
Orofaciodigitales Syndrom 04
TCTN3
Orofaciodigitales Syndrom 06
CPLANE1
Orofaciodigitales Syndrom 16
TMEM107
Orofaciodigitales Syndrom 9
Parodontales Ehlers-Danlos-Syndrom
Proximaler Symphalangismus
Renale tubuläre Azidose mit Arthrogrypose
Simpson-Golabi-Behmel-Syndrom
Stapesankylose mit breiten Daumen und Zehen
Syndaktylie Typ 5
Syndrom der multiplen Synostosen 3
Synpolydaktylie Typ 1
Tarsal-Karpal-Fusions-Syndrom
Tatton-Brown-Rahman-Syndrom
Townes-Brocks-Syndrome
Trigonocephalie 2
Van Maldergem-Syndrom 2

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Orphanet article

Orphanet ID 140997 external link
Update: 14. August 2020
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