SF3B4-related acrofacial dysostosis

Definition

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 — per MONDO