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Acrofacial dysostosis, Nager type MeSH Supplementary Concept Data 2022


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
Registry Number
0
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 Preferred
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