Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. The mutations in ZSWIM6 have been shown to underlie this disorder.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD25 Syndromes with face or limb anomalies as a major feature
H02210 Acromelic frontonasal dysostosis
