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Postaxial acrofacial dysostosis

Disease definition

A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia.


Classification level: Disorder
  • Synonym(s):
    • Acrofacial dysostosis, Genee-Wiedemann type
    • Mandibulofacial dysostosis with postaxial limb anomalies
    • Miller syndrome
    • POADS
    • Postaxial acrodysostosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q75.4
  • OMIM: 263750
  • UMLS: C0265257
  • MeSH: -
  • GARD: 8410
  • MedDRA: -

Detailed information


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