Synonyms: FFU complex | Femur-fibula-ulna dysostosis | Femur-fibula-ulna syndrome
A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur fibula and/or ulna which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical with upper limbs more often affected than lower limbs and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia hypoplasia of the humerus humero-radial synostosis and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton internal organs and intellectual function are usually normal.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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