Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones.

Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal rounding.

[3] Multiple epiphyseal dysplasia (MED) encompasses a spectrum of skeletal disorders, in which are inherited in an autosomal dominant form.

The following testing regime has been recommended by the European Skeletal Dysplasia Network:[citation needed] All those genes are involved in the production of the extracellular matrix (ECM).

Another role is maintaining a vascular smooth muscle cells contractile under physiological or pathological stimuli.

MATN3 protein may play a role in the formation of the extracellular filamentous networks and in the development and homeostasis of cartilage and bone.

[17] Symptomatic individuals should be seen by an orthopedist to assess the possibility of treatment (physiotherapy for muscular strengthening, cautious use of analgesic medications such as nonsteroidal anti-inflammatory drugs).

[24] Multiple epiphyseal dysplasia was described separately by Seved Ribbing and Harold Arthur Thomas Fairbank in the 1930s.

[3] In 1994, Ralph Oehlmann's group mapped MED to the peri-centromeric region of chromosome 19, using genetic linkage analysis.

[27] In 1995, the group led by Knowlton did a "high-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12.

[29] In 2007, Piròg-Garcia's group generated another mouse model carrying a mutation previously found in a human patient.

With this new model, they were able to demonstrate that reduced cell proliferation and increased apoptosis are significant pathological mechanisms involved in MED and PSACH.

Myopathy in the mutant mouse results from underlying tendinopathy, because the transmission of forces is altered from the normal state.

In this work, the researchers suggest to the pediatric doctor to perform x-rays before starting the neurological assessment, to exclude the dysplasia.