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. When a patient starts to generate new bone, what doctors calls a flare-up; it causes tissue swelling and joint stiffness. Flare-ups may last as long as 6-8 weeks. Also during a flare-up the patients might experience low-grade fevers, this is mainly because fevers are part of an inflammatory reaction. In most cases, fibrodysplasia ossificans progressiva is missed diagnosed. One of the most common missed diagnoses is cancer because of the tumor like knots when the doctors go in to try to remove the “tumor” they cause more damage because flare-ups typically develop after a person experiences trauma to the body, such as a fall, small bump or even a small burse. Also illnesses, such as the flu may also trigger flare-ups. In one case of FOP they did so much damage that they had to remove the patience arm. Experts estimate that the rate of misdiagnosis of FOP may be 80% or higher. FOP occurs randomly and is not inherited. Experts believe that one cause of fibrodysplasia ossificans progressiva is born with mutations in the ACVR gene what provides the body with instructio... ... middle of paper ... ...At that time physical therapy was recommended. Erin eventually learned how to roll over, sit up on her own, and walk all through physical therapy. However these milestones were significantly delayed and her balance was always off. Erin took a horrific fall off the couch and landed on her forehead. She was still swollen from the “allergic reaction” from the previous month. A CT-Scan showed no bone fractures but the goose-egg that had developed took months to go away. In 2008 she officially diagnosed with FOP. Ashley Kurpiel lives in Georgia. She was adopted when she was nine weeks old. Just before she turned 3 years old, she was misdiagnosed with cancer and her right arm/shoulder was amputated. Five months after her amputation she was correctly diagnosed with Fibrodysplasia Ossificans Progressiva, or more commonly known as FOP. She is the only amputee with FOP.
Type I and II classic EDS are identifiable by the smooth hyperextensible skin, anomalous wound healing, and joint hypermobility (Malfait F, Wenstrup R, De Paepe A, 2007) (see figure 1). Type III hypermobile EDS is the least drastic type of EDS, musculoskeletal complications may occur. The skin is smooth and slightly hyperextensible, bruising is also common. The hypermobile EDS patient suffers from chronic pain associated with dislocation from a slight amount of trauma (Levy, 2004). Type IV vascular EDS is recognizable by the translucent thin skin, easy bruising, facial manifestation (only present for some EDS patients), and finally by the fragility of the arterial, intestinal and (in some cases) the uterine (Pepin and Byers, 1999). Type VI kyphoscoloitic EDS can be identified at birth from severe muscular hypotonia. The skin is hyperextensible, thin scarring, bruising from minimal trauma, and joint laxity (Yeowell and Steinmann, 2000). Type VII A and B arthrochalasia can be identified by joint hypermobility, as well as fragile skin and tissue deformities. The hypermobile joints lead to severe dislocations and paralyzation...
The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints between certain bones of the skull, unusually flat, underdeveloped midfacial regions abnormally broad great toes, and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited. Mutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called
It is caused by mutations to the cystic fibrosis transmembrane conductance regulator(CFTR) gene. Located on human chromosome 7, the CFTR gene is made up of 250,000 DNA nucleotides.
Osteogenesis imperfecta, also known as “brittle bones disease,” is a rare genetic disorder that affects the body’s production of type I collagen, which is the major protein of the body’s connective tissue. Generally, people affected with OI either have too little of type I collagen, or the quality of it is poor. Collagen defects account for about 85%.1 However, proteins in the bones may be affected in some of the more uncommon forms of OI. Because of this defect, people with OI have fragile bones, which break easily without an apparent cause.
Circumstance: Liam will be healthy and free from severe impairments from the diagnosed DisGeorge Syndrome. Ms. Smalls (MHP) made face to face contact with Wigfall (MHS) and Liam to review paperwork and therapy process.
This case study describes the difficult decisions and agony that Frank and Anita had to face in August of 2000 when their daughter Chanou was born with an extremely rare, incurable metabolic disorder. Because of the disorder, Chanou had an abnormal bone development that brought about a constant pain that prevented her parents from even touching her without causing increased pain.
The first physical characteristics of fibrodysplasia ossificans progressiva at birth are typically malformations of the great toe or fingers. The example in Figure 1 demonstrates the classic FOP characteristic hallux valgus, which is the inward turning of the great toes. It is stated by National Organization for Rare Disorders (NORD), these abnormalities in the great toe will be shorten, a malformed distal first metatarsal, and missing or abnormal interphalangeal joint. Furthermore, NORD explained there are pre-osseous soft tissue swellings that begin in early childhood with FOP patients. These flare-ups and swellings as seen above in Figure
Dozier, T., Duncan, I., Klein, A., Lambert, P., & Key, L. J. (2005, April 26). Otologic manifestations of malignant osteopetrosis. National Center for Biotechnology Information. Retrieved November 27, 2011, from http://ncbi.nlm.nih.gov
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Collagen is the main protein that works toward the production of connective tissue. Individuals with this disorder will produce less collagen than needed, which causes the bone development to be endangered. This could result in bone deformities. There are four types of osteogenesis imperfecta, and in all four types you will see bone fragility with multiple fractures and bone deformities.
The disease can either be active or in remission depending on whether the tissues are inflamed or not. There are no systems when Rheumatoid Arthritis is in remission. When it becomes active again, it is called a flare and all the symptoms come back. The main symptoms are: fatigue, loss of appetite, fever, aches in the muscles and joints, and stiffness. The stiffness usually occurs in the morning or after resting for a long time. The joints can also go red, swell and be painful because the joint lining is inflamed which causes extra synovial fluid to be produced and the joint lining tissue to get thicker. The early symptoms usually are in small joints of the hands and wrists, and they are pain and stiffness...
There are different types of knee diseases and Osgood-Schlatters Disease just happens to be one of them. OSD is an inflammation of the patellar ligament at the tibial tuberosity. It is characterized by a painful bump just below the knee and is occurs most often in young adolescents. The disease often occurs the most when a young child is involved with sports, such as soccer, basketball, figure skating, and ballet. While the disease is more common in boys, the gender gap is narrowing as more girls are becoming involved with sports.
Other symptoms include sore throat and swollen lymph nodes in the neck. A few weeks after these initial symptoms, joints and muscles begin aching. These aches last at least two weeks. The most commonly affected joints are the knee and wrist. The ankles, shoulders, elbows and finger joints may also be involved.
Emerging research and potential treatments in achondroplasia and other skeletal dysplasias. (n.d.). Retrieved March 17, 2014, from http://www.lpaonline.org/research-and-treatments
Fibrous dysplasia is a genetic disorder and there's no cure. Treatment, which may include surgery, focuses on relieving signs and symptoms.Fibrous dysplasia may cause few or no signs and symptoms, particularly if the condition is mild. More severe fibrous dysplasia may cause: Bone pain, Bone deformities, Fractures, and Nerve entrapment. Severe fibrous dysplasia can cause: Bone deformity or fracture. The weakened area of an affected bone can cause the bone to bend. These weakened bones also are more likely to fracture.Vision and hearing loss. The nerves to your eyes and ears may be surrounded by affected bone. Severe deformity of facial bones can lead to loss of vision and hearing, but it's a rare complication.Arthritis. If leg and pelvic bones are deformed, arthritis may form in the joints of those bones.Cancer. Rarely, an affected area of bone can become cancerous. This rare complication usually only affects people who have had prior radiation therapy.
There are many well-known disabilities and osteogenesis imperfecta is not one of them. Thus, this disability will be the topic of my investigation. Although osteogenesis imperfecta, also known as brittle bone disease, is not a widely-known condition, having knowledge on this rare condition will be helpful in case I encounter a child or adult with this condition. By having knowledge on rare conditions like osteogenesis imperfecta, better care and understanding can be provided to someone who is encountering this condition. All children and families deserve patience, understanding, and knowledgeable teachers, regardless if a child’s disability is well-known or not.