Postaxial acrofacial dysostosis

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Postaxial acrofacial dysostosis

Synonyms: Acrofacial dysostosis, Genee-Wiedemann type | Mandibulofacial dysostosis with postaxial limb anomalies | Miller syndrome | POADS | Postaxial acrodysostosis

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Postaxial acrofacial dysostosis?

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