Hereditary Multiple Exostoses

MM is often also characterized usually in the pelvis, spine, ribs, and skull by diffuse osteoporosis.

Morquio syndrome makes your bones look abnormal or disfigured. They can be curved in the spine or any other part of the body. Also your heart and organs grow abnormally and eventually your heart or organs become too big for your body and you die. The liver and spleen are mildly enlarged also sometimes. The long bones in the legs and arms are usually shorter and thicker than a normal person. The skull is large for the rest of the body.

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

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.

There was a girl who loved playing volleyball, she played all the time hoping to get better. Due to this, she had to fall on her knees a lot so as to not let the ball touch the ground. After some time she noticed her knees stayed swollen and it hurt. Worried her knees will stay like that, she went to the doctor to be diagnosed. They told her it is a disease called Osgood-Schlatter and she shouldn’t worry too much, it will probably disappear eventually. Although, she will need to reduce her hours of exercise for some time, since she could injure her knee more.

1. An x-ray examination of the thoracic spine reveals osteopenic changes at T7. What does this mean?

Previous research by Kaplan in the Skeleton in the closest devoted an article on Harry Eastlack living with the disease. Harry Eastlack is the perfect example of unnecessary biopsies and surgical procedures that greatly exacerbated his condition. During Harry’s lifetime, he experienced eleven operations because doctors failed to focus on the connections between the heterotopic ossification and the malformation of the toes (Kaplan, 2013). He was born with malformed toes, yet it wasn’t until his leg was struck by a car at the age of five that caused the progression of the disease. After the car accident, the flare-ups began and formed heterotopic bone in his lower limb. As the disease advanced Harry was unable to function with normal daily activities and was moved to a nursing home. Figure 4 illustrates the progression of Harry Eastlack fibrodysplasia ossificans progressiva throughout his life. Prior to his death he made a noble decision to bequeath his body and medical records to The Mutter Museum of The College of Physicians in Philadelphia for future generations to learn and study his disease (Kaplan 2013). Till this day, scientific researchers refer to his medical records as a guide to the disease. Although, Harry was never diagnosed with fibrodysplasia ossificans progressiva during his life, his contribution has made a significate impact with the members of the fibrodysplasia ossificans progressiva

Children with MPS 2 grow steadily until about the age 5 and then growth slows and develop short stature. Individuals with this condition have joint deformities that affect mobility. Most people with this disease have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x ray. Dysostosis multiplex includes a generalize thickening of most long bones, particularly in the ribs.

Fibrodysplasia ossificans progressiva is a rare and incapacitating condition of skeletal malformations and progressive heterotopic ossification. It was originally called myositis ossificans progressive (MOP) and was discovered by a French physician, Guy Patin, who came across a patient who had FOP. He described the patient to have “swellings” in his back (History of FOP, 2009). They changed it from MOP to FOP because other fibrous tissues in addition to muscle are replaced by bone. FOP causes excessive bone growth and begins in the early stages of life.

Fibrodysplasia ossificans progressiva (FOP) is defined as a rare genetic disorder that causes soft tissues to transform permanently into bone. These bones grow abnormally in the muscles, tendons, ligaments and other connective tissues, forming bridges of extra bone across the joints. As a result of the abnormal bone growth, movement in those areas affected by FOP is greatly limited and sometimes impossible. The condition affects many areas of the body, commonly the neck, spine, chest, shoulders, elbows, wrists, hips, knees, ankles and jaw. Similarly to Marfan Syndrome, FOP is an autosomal dominant condition, meaning that a person needs only to get the gene for FOP from one parent to inherit the disease. However, in a lot of cases, FOP occurs as a mutation and then has a 50 percent chance of passing it on to his

As per the Mayo Clinic the symptoms that the patient encountered is related to a pituitary adenoma, due to the tumor pressure (www.mayoclinic.org). The visual disturbances and headaches indicate an increase growth, which causes pressure to the surrounding area. The weight gain and increase in shoe size is caused by an increase production in growth hormone. Excess production in growth hormone can cause enlarged hands and feet.

Melorheostosis is a disease of the skeletal system and is a condition that begins mostly during childhood, or before the age of twenty. This disease is known for the thickening of the bones, in which the outer layer of the bone widens and becomes hyperdense in a sclerotomal distribution. This condition often times only affects the appendicular skeleton and is known as a mesenchymal dysplasia. Melorheostosis is very rare and is non hereditary. This disease has a “flowing wax” appearance that makes it very recognizable when examining the bones.

Now to get back to the actual disease itself to help explain what occurred in these two patients. Melorheostosis, like most disease names is derived from the Greek words “melos,” meaning limb, and “rhein,” meaning flowing. This disease is commonly found in both males and females and has an occurrence of 0.9 per million. Patients with this disease often times have pain in their limbs and their range of motion is lessened. Genetically, the LEMD3 gene, has a loss in its function; its function being to encode the inner nuclear membrane protein. This disease can be monostotic, polyostotic, which means on the same side of the skeleton, or on a rare occasion, it can be monomelic. Melorheostosis very rarely involves the axial skeleton, but when it

This is treated by antibiotics are given for ear infections, surgery may be performed in severe cases of spinal stenosis. Even some doctors use growth hormones to increase the growth rate of a child’s bones, (there’s not a cure or specific treatment for this disease). Nothing else is contribute to this disease that I am aware

Triple X Syndrome, also known as Trisomy X or 47,XXX, is a genetic disorder in which an extra X chromosome is present in each of a female’s cells. “Triple X syndrome results from an extra copy of the X chromosome in each of the female’s cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of the usual 46,” (Triple X Syndrome.) About 1 in 1,000 newborn girls are affected with this condition. Trisomy X is a genetic disorder that is not inherited, has little to no symptoms, and has no cure or treatments.