Acrofacial dysostosis, Nager type [Supplementary Concept]
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 introduced: June 25, 2010
MeSH Unique ID: C538184
Heading Mapped to:
Entry Terms:
- Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies
- Nager syndrome
- AFD, Nager type
- Preaxial acrofacial dysostosis
- Acrofacial Dysostosis 1, Nager Type
- Nager Acrofacial Dysostosis
- Nager Acrofacial Dysostosis Syndrome
- Afd1
- Preaxial Mandibulofacial Dysostosis