How many types of Usher syndrome are there?Usher Syndrome:Usher syndrome is a rare genetic disorder that affects the senses of hearing, vision, and often balance. Hearing loss and balance impairment are caused by dysfunction of the inner ear, especially in the small hairs lining the cochlea, ...
Down syndrome, also known as trisomy 21, is a genetic disorder where the person has an abnormal number of chromosomes. In this case, instead of the usual 2 chromosomes on human chromosome 21, the person has three. This results in some abnormalities in a person's physical and developmental a...
Marfan syndrome is caused by FBN1 gene mutation and is characterized by connective tissue disorder [43]. It is best known for cardiovascular and musculoskeletal abnormalities; however other systems are also affected (i.e., ophthalmologic and pulmonary). The most common cause of death in Marfan ...
They address diseases like Marfan and Goodpasture's syndromes, sarcoidosis, autoimmune pulmonary alveolar proteinosis, hereditary haemorrhagic telangiectasia, Hermansky-Pudlak syndrome, primary ciliary dyskinesia, cystic fibrosis, scleroderma lung disease, and alpha-1 antitrypsin deficiency, and their epidemiology...
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifa...
sometimes, kids can inherit flat feet that persist into adulthood. In these cases, flat feet may be inherited as a standalone trait or as part of a genetic condition that affects bones or tendons, such as a tarsal coalition, osteogenesis imperfecta, Ehlers-Danos syndrome or Marfan syndrome. ...
Given the patient's symptoms, what is the likely medical problem?What is the pathophysiology of Marfan's syndrome?Describe the effects of eating disorders on the health of athletes. What are the symptoms that may suggest there is a problem? In particular, outline the female athlete...