MeSH Browser

MeSH Supplementary: Genee-Wiedemann syndrome
Unique ID: C537680
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537680
Entry Term(s): Genee-Wiedemann acrofacial dysostosis; Miller syndrome; POADS syndrome; Postaxial Acrofacial Dysostosis; Postaxial Acrofacial Dysostosis (POADS); Postaxial acrofacial dysostosis (POADS) syndrome; Wildervanck-Smith syndrome
Registry Number: 0
Heading Mapped to: *Abnormalities, Multiple; *Mandibulofacial Dysostosis; *Micrognathism; *Limb Deformities, Congenital
Frequency: 18
Note: A rare autosomal recessive disorder characterized clinically by severe micrognathia, CLEFT LIP or CLEFT PALATE, hypoplasia or aplasia of the postaxial elements of the limbs, COLOBOMA of the eyelids, and supernumerary nipples. Mutations in the DHODH gene have been identified. OMIM: 263750
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Genee-Wiedemann syndrome MeSH Supplementary Concept Data 2024