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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-05-2015
Symbol AFD3
Location 2p11.2
Name acrofacial dysostosis 3, Cincinnati Type
Corresponding gene POLR1A
Main clinical features
  • cranioskeletal malformation syndrome, with mandibulofacial dysostosis, micrognathia, down-slanting palpebral fissures, severe bilateral lower eyelid clefts, inferiorly displaced orbits, an underdeveloped midface
  • associated to short stature, with or without extrafacial skeletal defects
  • Genetic determination
    Function/system disorder
    Type disease