Acrofrontofacionasal dysostosis Other names Richieri-Costa-Colletto syndrome  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-Huet Anomaly syndrome and Infantile Liver Failure Syndrome.
References [ edit ]
RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acrofrontofacionasal dysostosis". www.orpha.net . Retrieved . 17 July 2019
Palagano, Eleonora; Zuccarini, Giulia; Prontera, Paolo; Borgatti, Renato; Stangoni, Gabriela; Elisei, Sandro; Mantero, Stefano; Menale, Ciro; Forlino, Antonella; Uva, Paolo; Oppo, Manuela; Vezzoni, Paolo; Villa, Anna; Merlo, Giorgio R; Sobacchi, Cristina (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.
Richieri-Costa A, Colletto GM, Gollop TR, Masiero D (April 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". Am. J. Med. Genet. 20 (4): 631–8. doi: 10.1002/ajmg.1320200409. PMID 2986457.
External links [ edit ]