Acrofrontofacionasal dysostosis
{{Infobox medical condition
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|synonym = Richieri-Costa-Colletto syndrome{{cite web |last1=RESERVED |first1=INSERM US14-- ALL RIGHTS |title=Orphanet: Acrofrontofacionasal dysostosis |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784 |website=www.orpha.net |accessdate=17 July 2019 |language=en}}
|image = Autosomal recessive - en.svg
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|caption = Acrofrontofacionasal dysostosis is inherited in an autosomal recessive manner.
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|specialty = Medical genetics
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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.{{cn|date=September 2021}}
An association with mutations in the neuroblastoma amplified sequence gene (NBAS) has been reported.{{cite journal |doi=10.1016/j.bone.2018.06.013 |pmid=29929043 |title=Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 |journal=Bone |volume=114 |pages=125–136 |year=2018 |last1=Palagano |first1=Eleonora |last2=Zuccarini |first2=Giulia |last3=Prontera |first3=Paolo |last4=Borgatti |first4=Renato |last5=Stangoni |first5=Gabriela |last6=Elisei |first6=Sandro |last7=Mantero |first7=Stefano |last8=Menale |first8=Ciro |last9=Forlino |first9=Antonella |last10=Uva |first10=Paolo |last11=Oppo |first11=Manuela |last12=Vezzoni |first12=Paolo |last13=Villa |first13=Anna |last14=Merlo |first14=Giorgio R |last15=Sobacchi |first15=Cristina |s2cid=49428435 }} 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|date=September 2020}}
References
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Further reading
- {{cite journal | last=Prontera | first=Paolo | last2=Urciuoli | first2=Riccardo | last3=Siliquini | first3=Sabrina | last4=Macone | first4=Sara | last5=Stangoni | first5=Gabriela | last6=Donti | first6=Emilio | last7=Cantisani | first7=Teresa Anna | last8=Elia | first8=Maurizio | last9=Belcastro | first9=Vincenzo | title=Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin | journal=American Journal of Medical Genetics Part A | volume=155 | issue=12 | date=2011 | issn=1552-4825 | doi=10.1002/ajmg.a.34295 | pages=3125–3127 | ref=none}}
- {{cite journal | last=Richieri‐Costa | first=A. | last2=Colletto | first2=G. M. D. D. | last3=Gollop | first3=T. R. | last4=Masiero | first4=D. | last5=Opitz | first5=John M. | last6=Reynolds | first6=James F. | title=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 | journal=American Journal of Medical Genetics | volume=20 | issue=4 | date=1985 | issn=0148-7299 | doi=10.1002/ajmg.1320200409 | pages=631–638 | ref=none}}
External links
{{Medical resources
| ICD11 = {{ICD11|LD25.3}}
| ICD10 = {{ICD10|Q75.1}}
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| MeshID = C538186
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| SNOMED CT = 720408003
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| GARDNum = 484
| GARDName = Acrofrontofacionasal dysostosis
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| Orphanet = 1784
| Scholia = Q4675773
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Category:Genetic diseases and disorders
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