Fybrodysplasia Ossificans Progressiva

Achondroplasia is when cartilage during development is not developed into bone, which results in dwarfism. This condition also characterized by short limbs is initiated by a gain of function mutation in the FGFR3 gene. This mutation is a point mutation. When this mutation occurs, the receptor of the FGF does not need the FGF signal to be activated. This causes the chondrocytes to stop dividing and start differentiating into cartilage prematurely and the bones fail to grow to their proper length, thus resulting in the short limbs that result from this mutation. (textbook) The FGFR3 gene encodes for the Fibroblast growth factor receptor 3 protein. Textbook

Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).

Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a disease that effects bones and joints. Osteogenesis Imperfecta is a disease that effects child, and most often children are born with this disease. In some cases the disease may take a couple years to show symptoms, but more often than not the disease is recognized when the child is born. “Osteogenesis Imperfecta is caused by a defect in the gene which produces collagen 1, an important building block of bone” (Osteogenesis). The bones are very fragile, and often times break when touched or moved. The severity of the disease depends on which portion of the gene is affected. If a child is lucky, the disease may only affect a small portion of the gene, which would make the

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.

This disease is mostly an occurrence with Caucasians from Europe descent. The mutation happens in chromosome 7 in a gene called CFTR, this is a disease that starts with birth and goes until death. Cystic Fibrosis mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. Due to males being infertile and women having trouble getting pregnant, Cystic Fibrosis is much less spread. Unfortunately there is no true cure with this genetic disease, there are only treatments to prolong the life of one and also reduce the pain throughout the patient’s life, while these treatments are hard and time-consuming the treatments have work as shown by the life span of people with Cystic Fibrosis has been increasing ever

Osteogenesis Imperfecta (OI) is an inherited disorder characterized by extreme fragility of the bones also known as ‘brittle bone disease’.

Jeannie Peeper was born in 1958 with usual symptoms like “big crooked short toes”. 2 months later she had a bulbous swelling on the back of her head. And as the years passed her mother noticed Peeper couldn’t open her mouth as wide as her brother’s, so she took her to the doctor; who diagnosed her with FOP (Fibrodysplasia Ossificans Progressiva), a disorder in which a human can literally turn into bones, when she was just four years old. For instance this meant she was eventually going to grow a second skeleton. And since there wasn’t research about this rare disease, doctors told Peeper’s parents that they couldn’t do anything and for them to prepare for an early death. Sadly Peeper parents didn’t tell her until she was 8. “I remember vividly,

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

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

organ damage and the malfunctioning of the epithelial tissue were caused by this disease called

“I always knew I had a greater purpose than my regular 8-5 job," Falicia Fracassi of Fracassi Lashes said. Even when working in customer service, “Ladies would stop me on my break and they would talk to me about beauty ideas. I discovered that small changes in a woman’s beauty routine made them happier. I knew it was time for me to go at this full-time. I didn’t see anything past that but my own business–specifically eyelashes. I had always seen it as a side hobby, but it began to take over my life. People began to know me as the eyelash lady

There are numerous factors that contribute to the development of this horrible disease, but the most important factor is vitamin D deficiency. When the minerals in osteoid crystallize, they require adequate concentration of calcium and phosphate. When the concentration is not at the correct level, ossification does not proceed normally (Huether & McCance, 2008). Vitamin D regulates the absorption of calcium from the intestine. When there is a lack of vitamin D, the concentration of calcium begins to fall (Huether & McCance, 2008). The body begins to regulate this calcium drop by increases the amount of PTH synthesis and secretion (Huether & McCance, 2008). An increase of PTH causes a clearance of phosphate and without the correct levels of phosphate mineralization of the bones cannot proceed in the correct manor (Huether & McCance, 2008). The abnormality of bone growth can occur in spongy and compact bone (Mayo

Morgans mom found out on her fourth month of pregnancy that her child would suffer from hypophosphatasia (HPP). This disease reduces the levels of mineral and calcium in the bones making them weak and very dangerous or deadly. There was a very low chance she would even survive being born, luckily she did. She had very short limbs and bilateral cleft feet. Morgan was put straight into therapies and on drugs. She started losing her teeth very quickly. Morgan's parents took her to a new clinic and gave her a new experimental drug that worked wonders. Her teeth were staying in her mouth and her bones got stronger. She was now able to walk, ride a bike, and learn to

Achondroplasia is caused by an abnormal gene located on one of the chromosome 4 pair (humans have 23 pairs of chromosomes). It is a result of an autosomal dominant mutation in the fibroblast growth factor receptor gene 3 (FGFR3), which causes an abnormality of cartilage formation. FGFR3 normally has a negative regulatory effect on bone growth. In achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely shortened bones.