Acrofrontofacionasal dysostosis 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.
An association with mutations in the neuroblastoma amplified sequence gene (NBAS ) has been reported.[2] [citation needed
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 ] Classification External resources
