SF3B4-related acrofacial dysostosis

SF3B4-related acrofacial dysostosis is a congenital malformation syndrome. It is marked by differences in the face and jaw (mandibulofacial dysostosis) and by defects in the upper limbs. In some cases, people with this condition may also have differences in the lower limbs, along with variations such as shoulder and pelvic girdle hypoplasia, fibular hypoplasia, and the presence of an extra rib.

People with this condition often experience facial differences affecting the jaw and other facial structures. They may also have upper-limb defects with a range of variability. Some individuals can show additional signs such as lower-limb anomalies and differences in structures like the shoulder or pelvic area.

Information about causes is currently limited for this condition.

Information about treatment options and management approaches is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.