Femur-fibula-ulna complex

Orpha code: 2019OMIM code: 228200

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

No additional description.

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