Genee-Wiedemann syndrome [Supplementary Concept]

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 introduced: August 25, 2010

MeSH Unique ID: C537680

Heading Mapped to:

• Abnormalities, Multiple
• Mandibulofacial Dysostosis
• Micrognathism
• Limb Deformities, Congenital

Entry Terms:

• Genee-Wiedemann acrofacial dysostosis
• Miller syndrome
• Wildervanck-Smith syndrome
• Postaxial acrofacial dysostosis (POADS) syndrome
• POADS syndrome
• Postaxial Acrofacial Dysostosis
• Postaxial Acrofacial Dysostosis (POADS)