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Postaxial acrofacial dysostosis

Synonym(s) Acrofacial dysostosis, Genee-Wiedmann type
Mandibulfacial dysostosis with postaxial limb anomalies
Miller syndrome
Postaxial acrodysostosis
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q75.4
MeSH -
MedDRA -


Disease definition

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.


To date, less than 30 cases have been described in the literature.

Genetic counseling

Transmission appears to be autosomal recessive.

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