" /> Miller syndrome - CISMeF





Preferred Label : Miller syndrome;

CISMeF acronym : POADS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Genee-wiedemann syndrome; POADS; Postaxial acrofacial dysostosis;

Description : Miller syndrome, or postaxial acrofacial dysostosis, 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dihydroorotate dehydrogenase gene (DHODH, 126064.0001);

Prefixed ID : #263750;

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02/05/2025


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