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

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

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