MeSH Browser

MeSH Supplementary: Acrofacial dysostosis, Nager type
Unique ID: C538184
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538184
Entry Term(s): AFD, Nager type; Acrofacial Dysostosis 1, Nager Type; Afd1; Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies; Nager Acrofacial Dysostosis; Nager Acrofacial Dysostosis Syndrome; Nager syndrome; Preaxial Mandibulofacial Dysostosis; Preaxial acrofacial dysostosis
Heading Mapped to: *Mandibulofacial Dysostosis
Frequency: 41
Note: A autosomal dominant mandibulofacial dystosis characterized by downslanted palpebral fissures, midface retrusion, and MICROGNATHIA requiring TRACHEOSTOMY in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. PHOCOMELIA of the upper limbs and, occasionally, lower-limb defects has also been reported. Mutations in the SF3B4 gene have been identified. OMIM: 154400
Date of Entry: 2010/06/25
Revision Date: 2015/08/17

Acrofacial dysostosis, Nager type MeSH Supplementary Concept Data 2024