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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.
No clinical trials have been registered for SF3B4-related acrofacial dysostosis.
2 publications have been identified in PubMed for SF3B4-related acrofacial dysostosis. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).
Banik P (2025). [PMID: 41315142](https://pubmed.ncbi.nlm.nih.gov/41315142/). *Cell Mol Life Sci*. [Review / Meta-Analysis]
Griffin C (2025). [PMID: 40126363](https://pubmed.ncbi.nlm.nih.gov/40126363/). *Dis Model Mech*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 7:16 PM UTC
Common questions about SF3B4-related acrofacial dysostosis