Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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. Disease data Klasyfikacja Malformation syndrome Synonimy FFU complex PFFD Kompleks FFU Zespół udowo - strzałkowo - łokciowy Dyzostoza udowo - strzałkowo - łokciowa Femur-fibula-ulna dysostosis Femur-fibula-ulna syndrome Kod ORPHA 2019 Kod OMIM 228200 Kod ICD10 Q74.8 Kod ICD11 LD26.0 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl