Fibrodysplasia Ossificans Progressiva

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The Second Skeleton inside Me Human Anatomy and Physiology 1 The Second Skeleton inside Me Affecting only one in every 2 million people Fibrodysplasia ossificans progressiva (FOP) is one of the rarest genetic disorders of congenital skeleton malformations; identified by congenital malformation of the big toe at birth. Flare-ups occur by soft tissue injury followed by immobility. A mutation in the activin receptor IA/activin-like kinase 2 (ACVR1/ALK2), and bone protein (BMP) type I receptor were reported in all cases of FOP, making this a specific disease causing mutations in the human genome (Kaplan, 28 O). However, there is no current cure for FOP there are new developing treatments. The benefit to studying this rare…show more content…
Some of the signs of FOP are the malformation of the big toe at birth, which can be short, bent or curved inward and help clarify the diagnosis ("IFOP a website," 30 M). However, sometimes the doctors overlook this malformation in that cases there are other signs you can look for. As infants most children crawl on there hands and knees though, infants with FOP rather than crawling they usually scoot on their gluteus maximus; then proceed straight to walking. The reason for this is ether the facet joints in the neck did not form properly or they have fused together ("IFOP a website," 30 M). Although, with FOP being congenital it starts before birth, though the extra bone growth does not. Symptoms often or usually begin in the first two decades of life and most people who are affected find out they have FOP before the age of ten ("IFOP a website," 30 M). Inflammation of the soft tissues in the body such as muscles, tendons and ligaments throughout become swollen and sometimes painful and often appear to be tumors ("IFOP a website," 30 M). However, once the swelling subsides it leaves behind a new piece of mature bone ("IFOP a website," 30 M). Typically, the inflammation and bone growth occurs in the shoulders, neck and upper back regions in early child hood followed by the areas of the spine, chest, elbows, wrists, hips, knees, ankles and jaw ("IFOP a website," 30 M). However, the growth rates of new bone
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