Mandibulofacial Acrofacial dysostosis

Gene: SF3B4

Green List (high evidence)

The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a 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 have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome.

Over 50 families reported.

Created: 7 Aug 2021, 7:55 a.m. | Last Modified: 7 Aug 2021, 7:55 a.m.

Panel Version: 0.62

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acrofacial dysostosis 1, Nager type, MIM# 154400

Publications

• 22541558
• 23568615
• 24003905