Medicine:Acrofrontofacionasal dysostosis
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| Acrofrontofacionasal dysostosis | |
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| Other names | Richieri-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.[citation needed]
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. [citation needed]
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acrofrontofacionasal dysostosis" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784. Retrieved 17 July 2019.
- ↑ Palagano, Eleonora; Zuccarini, Giulia; Prontera, Paolo; Borgatti, Renato; Stangoni, Gabriela; Elisei, Sandro; Mantero, Stefano; Menale, Ciro et al. (2018). "Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1". Bone 114: 125–136. doi:10.1016/j.bone.2018.06.013. PMID 29929043.
- "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". Am. J. Med. Genet. 20 (4): 631–8. April 1985. doi:10.1002/ajmg.1320200409. PMID 2986457.
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