ナジェ症候群 Miller (Genee-Wiedemann) 症候群 Weyers 四肢顔面骨形成不全症 [DS:H02158] Cincinnati 型四肢顔面骨形成不全症
概要
Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genee-Wiedemann or Miller syndrome. Among several AFDs, causative mutations have recently been identified in an enzyme involved in pyrimidine biosynthesis in association with Miller syndrome, and in a component of the pre-mRNA spliceosomal complex with respect to Nager syndrome.
Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.
