SF3B4-related acrofacial dysostosis
Findings
No curated finding names SF3B4-related acrofacial dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0800483), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SF3B4HGNC:10771
- Definitive · ClinGen · Autosomal dominant · 2023
Where it sits
- A kind of
- Narrower terms (1)