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What is Acrofrontofacionasal dysostosis and explain in detail?
Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, and anomalies of foot structure.An association with mutations in the neuroblastoma amplified sequence gene (NBAS) has been reported