Multiple epiphyseal dysplasia
| Multiple epiphyseal dysplasia | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q78.8 |
| ICD-9-CM | 756.56 |
| OMIM | 132400 600204 600969 226900 607078 120210 |
| DiseasesDB | 30716 |
| eMedicine | article/1259038 |
| MeSH | D010009 |
| GeneReviews | |
| Orphanet | 251 |
Fairbank's disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends. As it expands outward from the growth plate, the cartilage mineralizes and hardens to become bone (ossification). In MED, this process is defective.
Multiple epiphyseal dysplasia (MED) encompasses a spectrum of skeletal disorders, most of which are inherited in an autosomal dominant form. However, there is an autosomal recessive form.
Associated genes include COL9A1,COL9A2,COL9A3,COMP, and MATN3.
Types include:
Children with autosomal dominant MED experience joint pain and fatigue after exercising. Their x-rays show small and irregular ossifications centers, most apparent in the hips and knees. A waddling gait may develop. Flat feet are very common.
The spine is normal but may have a few irregularities, such as scoliosis. There are very small capital femoral epiphyses and hypoplastic, poorly formed acetabular roofs. Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal rounding. By adulthood, people with MED are of short stature or in the low range of normal and have short limbs relative to their trunks. Frequently, movement becomes limited at the major joints, especially at the elbows and hips. However, loose knee and finger joints can occur. Signs of osteoarthritis usually begin in early adulthood.
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