mandibulofacial dysostosis การใช้

• In 2012, Canadian researchers belonging to the FORGE ( Finding of Rare disease GEnes ) consortium identified new dominant mutations in " SF3B4 " as the cause of Nager syndrome, a rare type of mandibulofacial dysostosis with associated limb malformations.
• The genetic abnormalities underpinning the combination of DBA with Treacher Collins syndrome ( TCS ) / mandibulofacial dysostosis ( MFD ) phenotypes are heterogeneous, including RPS26 ( the known DBA10 gene ), TSR2 which encodes a direct binding partner of RPS26, and RPS28.
• Congenital craniofacial differences are conditions affecting the head and face that present at or shortly after birth such as craniosynostosis, cleft lip and palate, hemifacial microsomia ( aka craniofacial microsomia, oculoauriculovertebral spectrum, or Goldenhar syndrome ), and Treacher Collins syndrome ( aka mandibulofacial dysostosis ).
• Heterozygous loss-of-function mutations in " EFTUD2 " cause "'Mandibulofacial Dysostosis with Microcephaly "'( "'MFDM "'; OMIM # 610536 ), a multiple malformation syndrome comprising progressive microcephaly ( present in all affected individuals ), craniofacial skeletal anomalies, cleft palate, deafness, choanal atresia, small stature, and / or cardiac and thumb anomalies.