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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. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
Use of the operation in veterinary science was first described in 1961 by J. S. A. Spreull. [3] Dogs, cats and small horses, donkeys and ponies have all had the procedure performed successfully. It may be used in some cases of hip dysplasia , an extremely painful congenital condition found in many dog breeds and some cats. [ 4 ]
[3] Some affected individuals are born with an inward- and downward-turning foot (a clubfoot). An abnormality of the kneecap called a double-layered patella is also relatively common. Although some people with recessive multiple epiphyseal dysplasia have short stature as adults, most are of normal height.
Hip replacement in a dog. Hip replacement is a surgical procedure performed in dogs and cats as a salvage procedure, to alleviate severe pain in the hip due to, for example, hip dysplasia or irreparable bone fracture. [1] [2] The procedure replaces the head of the femur and the acetabulum with prosthetic implants. [1]
The other features include multiple epiphyseal dysplasia, osteopenia, intellectual disability, and hepatic and renal dysfunction. [1] Patients having features that suggest Wolcott–Rallison syndrome can be referred for genetics testing. The key way to test for this disease is through genetic testing for EIKF2AK3 mutations. [7]
X-ray of the spine in a patient with spondyloepimetaphyseal dysplasia. Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [3] The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous).
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. [1] The name of the condition indicates that it affects hearing (oto-) and the bones of the spine (spondylo-), and enlarges the ends of bones ( megaepiphyses ).
[1] [2] The incidence of hereditary multiple exostoses is around 1 in 50,000 individuals. [3] Hereditary multiple osteochondromas is the preferred term used by the World Health Organization. A small percentage of affected individuals are at risk for development of sarcomas as a result of malignant transformation. The risk that people with ...