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.