- Source: Acrofrontofacionasal dysostosis
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. 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–Huët anomaly syndrome and infantile liver failure syndrome.
References
Further reading
Prontera, Paolo; Urciuoli, Riccardo; Siliquini, Sabrina; Macone, Sara; Stangoni, Gabriela; Donti, Emilio; Cantisani, Teresa Anna; Elia, Maurizio; Belcastro, Vincenzo (2011). "Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin". American Journal of Medical Genetics Part A. 155 (12): 3125–3127. doi:10.1002/ajmg.a.34295. ISSN 1552-4825.
Richieri‐Costa, A.; Colletto, G. M. D. D.; Gollop, T. R.; Masiero, D.; Opitz, John M.; Reynolds, James F. (1985). "A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto‐nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly‐syndactyly: Acro‐fronto‐facio‐nasal dysostosis syndrome". American Journal of Medical Genetics. 20 (4): 631–638. doi:10.1002/ajmg.1320200409. ISSN 0148-7299.
