Congenital Hearing Loss

internal bleeding disorder :: Article Creator Internal Bleeding: Causes, Treatments, And More Internal bleeding occurs within your body, such as inside the stomach or the brain. Bleeding internally is often the result of trauma or an injury, but there are rarer causes. An injury that damages the outside of your body is easy to see. A cut or tear in your skin usually bleeds. You can see what's hurt, and it's easy to pinpoint what caused it. Internal bleeding isn't as easy to see or diagnose. Less obvious causes can result in internal bleeding, too. These include gastritis, organ damage, or a bleeding disorder. In some cases, the bleeding may be a sign of a life threatening condition. If you or someone you know suddenly develops the following symptoms, seek immediate medical attention. These could be symptoms of internal bleeding: You may notice bloody or dark vomit or stool. Occasionally, if the bleeding is b...

cdkl5 disorder :: Article Creator The CDKL5 Disorder Is An Independent Clinical Entity Associated With Early-onset Encephalopathy Individuals with mutations in the CDKL5 gene have been variably classified as having early infantile epileptic encephalopathy, X-linked dominant infantile spasm syndrome, the ESV RTT or diagnosed with other epileptic disorders such as West syndrome.1, 3 We described the clinical presentation and physical appearance of individuals with the CDKL5 disorder, providing information from a large international dataset. The CDKL5 disorder appears to be characterised by seizure onset in the majority before 3 months of age, severely impaired gross motor, language and hand function skills, and subtle but shared physical characteristics such as a prominent/broad forehead, deep-set but large-appearing eyes, full lips and tapered fingers. Our findings suggest that the CDKL5 disorder is an independent entity and should not be considered ...

mps ii hunter syndrome :: Article Creator Hunter Syndrome (MPS II) Hunter syndrome, also called mucopolysaccharidosis II or MPS II, is a rare disease that's passed on in families. It mainly affects boys. Their bodies can't break down a kind of sugar that builds bones, skin, tendons, and other tissue. Those sugars build up in their cells and damage many parts of the body, including the brain. Exactly what happens is different for every person. When your son has Hunter syndrome, there are things you can do to help them play, have friends, and do some of the things that other kids do, even though they may look different from their pals. Although there is no cure for Hunter syndrome, there are ways to help manage it and live with the symptoms. Boys with the disease can't make a certain protein because there's a problem with a small piece of their DNA, called a gene, that comes from their mother. A dad with Hunter syndrome wil...

clotting disorder von willebrand :: Article Creator What Is Von Willebrand Disease? Von Willebrand disease (VWD) is a disorder that makes it hard for your blood to clot. This happens because you don't have enough of a clotting protein called von Willebrand factor (VWF). It could also happen because you have a type of VWF that doesn't work well. If you have von Willebrand disease, a cut, accident, or surgery can result in bleeding that's hard to stop. VWD is the most common inherited bleeding disorder. That means you get it from your parents. It affects an estimated 1 in 100 to 1 in 1,000 people. There are three types of inherited VWD and one type of the disorder that isn't hereditary. Type 1: This is the most common form of inherited VWD. About 60% to 80% of people with VWD have this type. With Type 1, you don't have enough von Willebrand factor in your blood. Typically, you have 20% to 50% of normal levels. Symptoms of T...

turner syndrome xo :: Article Creator What Is Turner Syndrome? Turner syndrome is a rare genetic disorder found in some women and people assigned female at birth. It can cause short stature and a range of health issues including heart defects, learning disabilities, and infertility. Sometimes, symptoms are so mild that the disorder isn't diagnosed until teen or young adult years. Turner syndrome can cause symptoms throughout your life. Treatments and findings from ongoing research can help you manage its symptoms. About 70,000 women and people assigned female at birth in the U.S. Live with Turner syndrome. A pediatrician should be part of your child's Turner syndrome care team. (Photo Credit: E+/Getty Images) Turner syndrome happens when a female is missing certain genes normally on the X chromosome. (Females have two X chromosomes, while males have an X and a Y chromosome). Some people with Turner syndrome are missing a whol...