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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.
Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. [ 3 ]
Menopause results in mineral loss in bone for women and a slow decline of the production of sex hormones could lead to the development of bone disorders in men, mainly Osteoporosis. The elderly may be more susceptible due to medications they may be taking, worsening in vision as well as decreased ability to use muscle and bones to control balance.
Doctors rely on medical history, recreational and occupational hazards, intensity of pain, a physical exam to locate the source of the pain, and sometimes lab tests, X-rays, or an MRI [21] Doctors look for specific criteria to diagnose each different musculoskeletal disorder, based on location, type, and intensity of pain, as well as what kind ...
Hypophosphatasia (/ ˌ h aɪ p oʊ ˈ f ɒ s f eɪ t ˌ eɪ ʒ ə /; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, [5] or Rathbun's syndrome; [1] sometimes abbreviated HPP [6]) is a rare, and sometimes fatal, inherited [7] metabolic bone disease. [8]
The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI .
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).
Schwartz–Jampel syndrome is diagnosed on the basis of characteristic facial features, skeletal features and myotonia. Blood tests may show elevated serum creatine kinase or aldolase. X-rays, muscle biopsy or electromyography (EMG) may be useful. Genetic testing for the HSPG2 gene may confirm diagnosis. [3]