Acrofrontofacionasal dysostosis
| Acrofrontofacionasal dysostosis | |
|---|---|
| Other names | Richieri-Costa-Colletto syndrome[1] |
 | |
| Acrofrontofacionasal dysostosis is inherited in an autosomal recessive manner. | |
| Specialty | Medical genetics |
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–Huët anomaly syndrome and infantile liver failure syndrome.[citation needed]
References
[edit]- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acrofrontofacionasal dysostosis". www.orpha.net. Retrieved 17 July 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ 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. S2CID 49428435.
Further reading
[edit]- 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.
External links
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