SF3B4-related acrofacial dysostosis

A congenital malformation syndrome characterized by mandibulofacial dysostosis and anterior upper-limb defects, though occasionally, lower-limb defects have also been reported. Intrafamilial variability has been observed along with phenotype variability and severity including shoulder and pelvic girdle hypoplasia, fibular hypoplasia and eleven ribs.

Also known as: SF3B4-related acrofacial dysostosis

40 clinical trials for this condition and its sub-types.