Multiple epiphyseal dysplasia type 5

Orpha code: 93311OMIM code: 607078

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.

Disease data
Classification

Disease

Synonyms
BHMED
EDM5
MED5
BHMED
Bilateral hereditary micro-epiphyseal dysplasia
EDM5
MED5
Polyepiphyseal dysplasia type 5
ORPHA code
93311
OMIM code
607078
ICD10 code
Q77.3
ICD11 code
-

No additional description.

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