Cystic Fibrosis (CF) is a genetic disorder in which mucus glands produce abnormally thick secretions. These secretions can lead to chronic infections of the lungs and eventually lead to obstruction of the pancreas, resulting in digestive enzyme deficiency, the liver is also sometimes affected. Secretions from the sweat and salivary glands of a CF patient frequently contain abnormally high amounts of sodium and chloride. Because the body produces a high amount of salt, a sweat test is generally used to diagnose the disorder.
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.
Fibroids are becoming more and more common in women in the United States. It is estimated that 171 million women in the U.S. were affected by this condition in 2013(6). About 20% to 80% of women develop fibroids by age 50 (6). As many as three out of four women may have uterine fibroids in her lifetime (4). Fibroids, also known as uterine leiomyoma, are benign tumors that can be found in women of childbearing age due to its dependence on estrogen and progesterone (7). They are made of muscle cells and other tissues that can grow around or in the uterus or womb. With fibroids, a single cell divides repeatedly, eventually creating a firm, rubbery mass distinct from nearby tissue (2). Some fibroids even go through growth spurts where they grow and shrink on their by itself. There are women with fibroids who have no symptoms at all. If they do, it may consist of heavy or painful periods, frequent
Hereditary multiple exostoses (HME) is a pediatric skeletal disorder which develops between birth and 12 years of age. The disorder has an occurrence of 1 out of 50,000 children. HME is characterized by the development of multiple benign bone tumors, referred to as exostoses, which develop throughout the skeletal system. Tumors usually develop on the end of long bones and flat bones during growth of the child and stop developing once the child has stopped growing (National Library of Medicine [NLM], 2013).
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.
Fibrodysplasia Ossificans Progressiva disease also known as ‘FOP’ is a rare genetic disease of the connective tissue. FOP can be characterized by malformations of the big toe. This malformation is a characteristic feature that helps distinguish the disease from other muscle and bone issues. It is a disease that is caused by a mutation in the bodies repair mechanism. This causes muscle and connective tissue such as ligaments and tendons, to be ossified spontaneously or when they are damaged. Sometimes the bone can be permanently frozen in place in some cases. FOP is usually seen in early childhood it starts with the neck and shoulder and proceeds down the body and into the limbs. People who suffer from FOP are basically imprisoned by their own skeleton. Majority of FOP cases are sporadic and are a result from a new gene mutation (Lerardi-Curto and Lynne). This mutation is an autosomal dominant disorder; this means it affects those who are heterozygous with a homozygous recessive partner because of this it means their children will have a fifty percent chance of having FOP. Most cases of FOP are a result from new mutations in the gene. People who have FOP and have the heterozygous phenotype have less severe affects than those who have the homozygous dominant phenotype. Patients who have FOB have the ossification gene that is still working in their bodies and it is usually turned off after a
Neurofibromatosis is a genetic disorder caused by a gene mutation on chromosomes 17 or 22. Beginning in the nervous system, this disorder can create multiple tumors throughout the body, although for NF1, tumors are mostly located on the spine. But NF2 can also cause tumors to grow on the cranium, which can damage sight or hearing. There is also a third type of neurofibromatosis, but little is known about it.
Most parents are happy to deliver a healthy baby without any health complications, so to hear that your child was born with a congenital disease has to be hard to handle. In many cases, a child can live an enjoyable life with a congenital disease, such as dwarfism. There are many types of dwarfism beginning with the most common types to the rarest with Achondroplasia, Spondyloepiphyseal Dysplasia, and Diastrophic Dysplasia.
Unfortunately, there are many illnesses that can affect dogs at any stage in life. One that presents itself within the first year of a dogs life if is known as renal dysplasia. Renal dysplasia has been found in many breeds including Samoyeds, Alaskan Malamutes, Norwegian Elkhounds, Lhasa Apsos, Shih-tzus, Cocker Spaniels, Standard Poodles, Doberman Pinschers, and Wheaten Terriers (Renal Dysplasia in Dogs: Abnormal Kidney Development). Renal dysplasia can cause either one of the kidneys to be improperly developed or both improperly developed. The kidneys will frequently be undersized and therefore incapable of filtering the blood, conserving water, and ridding the body of metabolic wastes properly as two regular functioning
According to Medical News Today the inherited gene that causes NF1 can be found on chromosome 17 on the DNA (deoxyribonucleic acid) strands. Individual with NF normally develop brown spots (café au lait) at birth or during early childhood but, for a diagnosis more than six spots must be present. Or two of the following symptoms: soft tumors (neurofibromas) on the skin or under the skin, bone abnormalities, bowed legs or curving of the spine, vision problem, speech and learning disabilities, oversized head in children, freckles in the groin or armpit, and other skin folds.(Hsieh, 2015). Diagnose may also include x-rays, CT(computed tomography) scan, MRI(magnetic Resonance Imaging) scan of the brain or spine to detect tumors and blood test for genetic
Fibroids are abnormal (non cancerous) growths that develop in or on a woman’s uterus which appear during childbearing years. At least 20% of the women by the age of 30 and 70- 80 % by the age of 50 have fibroids in their uterus. But most females don’t know that they have fibroids because often they cause no symptoms. Fibroids range in size from seedlings undetectable by the human eye to bulky masses which can distort and enlarge the uterus.
Cellulite is a normal formation that affects most of the women and some of the men throughout their lives. Cellulite has a lumpy and hollowed appearance. The closest analogy to this is the orange shell. Well, what are the ways of getting rid of cellulite?
The purpose of this paper is to document the genetic disease hypertrichosis. Using articles, and web sources we will outline the history, genetic basis, and different treatments of this genetic disease. Hypertrichosis’ literal meaning is excess of hair growth. The elemental genetic defect remains unknown because there are many factors at work. There is a debate if hypertrichosis is an autosomal or X linked disease, since there have been documented cases of both. However, there are certain chromosomal defects that have proven to be present in many patients. Certain diseases and environmental triggers are known to be associated with hypertrichosis. Although this disease is nonfatal, it can be embarrassing and unpleasant for the patient. Excess hair can manifest itself on the hands, face, and body. There are few treatments aside from cosmetic procedures. There remains no known cure for hypertrichosis.
Fibrodysplasia Ossificans Progressiva (FOP) is an incredibly rare disease, affecting one persons per million. First described by Guy Patin in 1692, as a rare disabling disease characterized by a deformation of the great toes. Fibrodysplasia Ossificans Progressiva has been described by many names since its documentation: Munchmeyer’s disease, stone man’s disease, Myositis Ossificans Progressiva (Baidoo 2016). FOP is still often referred to today as stone man’s disease.