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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.
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]
Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae, [1] is an autosomal recessive [2] congenital disorder affecting cartilage and bone development.
Another characteristic of this syndrome is a mild spondyloepiphyseal dysplasia which can cause reduced height. [citation needed] Another sign of Stickler syndrome is mild to severe hearing loss that, for some people, may be progressive (see hearing loss with craniofacial syndromes).
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).
Treatment options include medications such as NSAIDs, corticosteroids, and joint fluid modifiers such as glycosaminoglycans. Other treatments include surgery, massage, warm compresses, chiropractic, and acupuncture. [35] Hip dysplasia is an inherited disease in dogs that is characterized by abnormal development of the acetabulum and head of the ...