Dysplazja wielonasadowa typu 5

Kod Orpha: 93311Kod OMIM: 607078

Definicja

Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.

Dane
Klasyfikacja

Choroba

Synonimy
BHMED
EDM5
MED5
BHMED
Bilateral hereditary micro-epiphyseal dysplasia
EDM5
MED5
Polyepiphyseal dysplasia type 5
Kod ORPHA
93311
Kod OMIM
607078
Kod ICD10
Q77.3
Kod ICD11
LD24.61

Brak opisu rozszerzonego dla tej choroby. Opracowanie w toku.

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