Acrofrontofacionasal dysostosis
| 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] 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 | edit source]
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acrofrontofacionasal dysostosis". www.orpha.net. Retrieved 17 July 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ↑
External links[edit | edit source]
| Classification | |
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| External resources |
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Contributors: Prab R. Tumpati, MD
