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Miller syndrome

Synonyms
Genee-Wiedemann acrofacial dysostosis; Genee-Wiedemann syndrome; POADS syndrome; Postaxial Acrofacial Dysostosis; Postaxial acrofacial dysostosis (POADS) syndrome; Wildervanck-Smith syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Miller syndrome, also known as postaxial acrofacial dysostosis (POADS), is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010). [from OMIM]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DHOdehase, POADS, URA1, DHODH
    Summary: dihydroorotate dehydrogenase (quinone)

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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