Multiple epiphyseal dysplasia type 1

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Name:
Multiple epiphyseal dysplasia type 1
Description:
Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.
ORPHAcode:
93308
Synonyms:
EDM1
MED1
Polyepiphyseal dysplasia type 1
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14