Acrofrontofacionasal dysostosis

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Acrofrontofacionasal dysostosis
Other namesRichieri-Costa-Colletto syndrome[1]

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.[2] This gene is located on the short arm of chromosome 2. Mutations in this gene have been associated with the Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly syndrome and Infantile Liver Failure Syndrome.


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