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At a glance

Acrofacial dysostosis is a term used to summarize several apparently distinctive genetic defects. The disorders are characterized by craniofacial malformations, especially involving severe mandibular hypoplasia and pre- and postaxial limb defects.

Synonyms and Classification

There are six types of Acrofacial Dysostosis.

  • Acrofacial Dysostosis Nager Type (Nager Acrofacial Dysostosis; Acrofacial Dysostosis Type 1; Preaxial Acrofacial Dysostosis; Preaxial Mandibulofacial Dysostosis)

  • Acrofacial Dysostosis Lethal Type of Rodriguez (Acrofacial Dysostosis, Madrid Type)

  • Acrofacial Dysostosis, Weyers Type (Weyers Syndrome II)

  • Acrofacial Dysostosis Miller Type (Postaxial Acrofacial Dysostosis; Miller Syndrome; Miller Acrofacial Dysostosis; POADS (Postaxial Acrofacial Dysostosis Syndrome); Genée-Wiedemann Syndrome)

  • Acrofacial Dysostosis, Catania Type (Catania Brachydactylous Type of Acrofacial Dysostosis)

  • Acrofacial Dysostosis, Palagonia Type

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