Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Postaxial acrofacial dysostosis

ORPHA246
Synonym(s) Acrofacial dysostosis, Genee-Wiedmann type
Mandibulfacial dysostosis with postaxial limb anomalies
Miller syndrome
POADS
Postaxial acrodysostosis
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Antenatal
Neonatal
ICD-10
  • Q75.4
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.

Transmission appears to be autosomal recessive.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Summary information
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.