/multiple epiphyseal dysplasia type 5

multiple epiphyseal dysplasia type 5

Rare Disease

MONDO:0011765

Also Known As

BHMEDEDM5MATN3 multiple epiphyseal dysplasia (disease)MED5Polyepiphyseal dysplasia type 5bilateral hereditary micro-epiphyseal dysplasiaepiphyseal dysplasia, multiple, type 5multiple epiphyseal dysplasia (disease) caused by mutation in MATN3Microepiphyseal dysplasia, bilateral hereditaryepiphyseal dysplasia multiple 5epiphyseal dysplasia, multiple, 5multiple epiphyseal dysplasia 5multiple epiphyseal dysplasia, MATN3 relatedmultiple epiphyseal dysplasia, MATN3-related

Definition

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.