SF3B4-related acrofacial dysostosis

MONDO:0800483

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

1 clinical trial for this condition and its sub-types, 0 tagged with SF3B4-related acrofacial dysostosis itself.

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Sub-types of SF3B4-related acrofacial dysostosis

Nager acrofacial dysostosis 0 trials

Including sub-types (1) Tagged with SF3B4-related acrofacial dysostosis (0)

Completed 1

Kids test new bionic foot design

Knowledge-focused Completed

This study tested a new prosthetic foot for children with leg amputations or birth defects. Thirteen kids walked with the device and gave feedback on stiffness and performance. The goal was to gather ideas to improve future foot designs.

Sponsor: Össur Iceland ehf • Aim: Knowledge-focused

Last updated Jun 27, 2026 14:00 UTC

SF3B4-related acrofacial dysostosis

Where it sits in the disease tree

Kids test new bionic foot design