Weismann-Netter syndrome

Orpha code: 3344OMIM code: 112350

Definicja

Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Anterior bowing of legs with dwarfism
WNS
Weismann-Netter-Stuhl syndrome
Kod ORPHA
3344
Kod OMIM
112350
Kod ICD10
Q77.8
Kod ICD11
LD24.C

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl