Multiple epiphyseal dysplasia (MED) is a general term for a group of disorders characterized by abnormal development of the bone and cartilage of the epiphyses, the rounded ends or "heads" of the long bones.
There are two types of multiple epiphyseal dysplasia depending on their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms.
Dominant multiple epiphyseal dysplasia
Dominant multiple epiphyseal dysplasia is a general term for a group of genetic disorders characterized by skeletal malformations (dysplasia) including those affecting bones of the hands, feet and knees. Joint pain – particularly of the hips or knees – is also common and often develops during childhood.
Initial signs may include pain in the hips and knees following exercise. Progressive joint disease, particularly of the large weight-bearing bones, is common. Dominant multiple epiphyseal dysplasia is caused by mutations in certain genes.
Recessive multiple epiphyseal dysplasia
Recessive multiple epiphyseal dysplasia (rMED) is a rare genetic disorder characterized by abnormal skeletal development mainly affecting the growth zones of the long tubular bones (dysplasia) including those affecting bones of the hands, hips, knees and feet. Joint pain, particularly of the hips and/or knees, is also common and develops during childhood.
Individuals with rMED may exhibit additional abnormalities such as mild sideways curvature of the spine called scoliosis. Certain malformations such as clubfoot or cleft palate can be present at birth (congenital).
Resources for families
For more resources and additional details, visit The Genetics Home Reference.
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