multiple epiphyseal dysplasia type 5
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.
MONDO:0016648
multiple epiphyseal dysplasia
is_a
BHMED
exact
EDM5
exact
MATN3 multiple epiphyseal dysplasia (disease)
exact
MED5
exact
Polyepiphyseal dysplasia type 5
exact
bilateral hereditary micro-epiphyseal dysplasia
exact
epiphyseal dysplasia multiple 5
related
epiphyseal dysplasia, multiple, 5
related
epiphyseal dysplasia, multiple, type 5
exact
multiple epiphyseal dysplasia (disease) caused by mutation in MATN3
exact
multiple epiphyseal dysplasia 5
related
multiple epiphyseal dysplasia, MATN3 related
related