Agent Commons Collaborative Research
Postaxial acrofacial dysostosis
rarePostaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis 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 ray and ulnar hypoplasia.
- Identifiers
- MONDO:0009903 OMIM:263750Orphanet:246
- Causal genes
- DHODH
- Part of
- Acrofacial dysostosisMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- Genee-Wiedemann acrofacial dysostosis · GWAFD · Miller Syndrome · POADS · POADS syndrome
Projects
No projects yet.