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Wiskott-Aldrich Syndrome

Wiskott-Aldrich Syndrome Overview What is Wiskott-Aldrich syndrome? Wiskott-Aldrich syndrome is a rare genetic condition that affects the function of your child’s immune system and cells. It causes symptoms that include: Eczema. Immune deficiency. Bleeding and bruising. This condition can lead to life-threatening complications and a short life expectancy. But treatment options help prevent these risks. How common is Wiskott-Aldrich syndrome? There are an estimated 3 per million males diagnosed with Wiskott-Aldrich syndrome. In the United States, this equals less than 5,000 people. This condition is rare but extremely unlikely among females. What is a WAS-related disorder? Your healthcare provider may refer to Wiskott-Aldrich syndrome as a WAS-related disorder. A WAS-related disorder affects the immune system and results from a genetic change of the WAS gene. X-linked thrombocytopenia is WAS-related. A healthcare provider may identify congenital neutropenia after serious bacterial infec...
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Werner Syndrome

Werner Syndrome Overview What is Werner syndrome? Werner syndrome is a rare genetic disorder that causes premature aging. You might also hear it called adult progeria. Signs of Werner syndrome aren’t usually noticeable until you reach puberty when you stop growing as rapidly as expected. Then, as you enter your 20s, you’ll start developing characteristics — and, in time, health conditions — associated with older age. And Werner syndrome isn’t just about graying hair and sagging skin. Aging isn’t just a cosmetic process. Many people with Werner syndrome experience life-threatening complications of aging by their 40s or early 50s. Symptoms Signs and symptoms of Werner syndrome become noticeable as you become an adult. In your 20s, you’ll notice more signs of early aging than your same-age peers. These may include: Hair graying and hair loss, including the eyebrows and eyelashes. High-pitched or hoarse voice. Loss of subcutaneous adipose tissue, the layer of fat directly beneath your skin...
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Weill-Marchesani Syndrome (WMS)

Weill-Marchesani Syndrome (WMS) Overview Weill-Marchesani syndrome (WMS) is a rare genetic connective tissue disorder characterized by distinctive eye abnormalities (microspherophakia, ectopia lentis), severe myopia, secondary glaucoma, short stature, brachydactyly (short fingers/toes), and joint stiffness. It is inherited via autosomal dominant (often FBN1) or autosomal recessive (ADAMTS10, ADAMTS17, LTBP2) patterns, presenting in childhood. Symptoms  Ocular (Eye) Abnormalities: Microspherophakia: The lens of the eye is unusually small and spherical, present in over 80% of cases. Ectopia Lentis: The lens is abnormally positioned (dislocated). Glaucoma: High eye pressure, often leading to severe vision loss or blindness. Severe Myopia: Extreme nearsightedness. Cataracts: Clouding of the eye lens. Skeletal Abnormalities: Short Stature: Typically, height is below the 1st percentile. Brachydactyly: Short, stubby fingers and toes. Stiff Joints: Reduced mobility, particularly in the...
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Wilms tumor

Wilms tumor Overview Wilms tumor is a rare kidney cancer that mainly affects children. Also known as nephroblastoma, it's the most common cancer of the kidneys in children. Wilms tumor most often affects children ages 3 to 4. It becomes much less common after age 5, but it can affect older children and even adults. Wilms tumor mostly occurs in just one kidney. But it can sometimes be in both kidneys at the same time. Over the years, progress in the diagnosis and treatment of Wilms tumor has greatly improved the prognosis for children with this disease. With treatment, the outlook for most children with Wilms tumor is good. Symptoms Symptoms of Wilms tumor vary a lot. Some children don't seem to have any symptoms. But others with Wilms tumor have one or more of these symptoms: A mass in the stomach area that can be felt. Swelling in the stomach area. Pain in the stomach area. Other symptoms might include: Fever. Blood in the urine. Low red blood cell level, also known as anemia....
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Walker-Warburg Syndrome

Walker-Warburg Syndrome Overview What is Walker-Warburg syndrome? Walker-Warburg syndrome is a genetic condition that affects the muscles in your child’s body, including their brain and their eyes. This condition is a type of congenital muscular dystrophy present at birth or infancy that leads to progressive muscle weakness over time. This condition causes life-threatening symptoms for children and a shortened life expectancy. What is dystroglycanopathy? You might hear Walker-Warburg syndrome identified as dystroglycanopathy. Walker-Warburg syndrome is a form of congenital (appears at birth) muscular dystrophy, which is a group of conditions that target the muscles of your child’s body. There are several types of muscular dystrophy categorized as dystroglycanopathy, which identifies forms of muscular dystrophy caused by genes that produce the dystroglycan protein. Walker-Warburg syndrome is the most severe type of dystroglycanopathy. How common is Walker-Warburg syndrome? Walker-Warbur...
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Von Hippel-Lindau Disease (VHL)

Von Hippel-Lindau Disease (VHL) Overview von Hippel-Lindau disease (VHL) is a rare genetic disorder that significantly increases the chance that you’ll have certain kinds of cancerous (malignant) tumors and noncancerous (benign) tumors and cysts. Healthcare providers may call this condition von Hippel-Lindau syndrome. The condition happens if you inherit a specific genetic mutation (change). Research shows that by the time they’re 65 years old, 97% of people who carry this genetic mutation will develop tumors and other conditions that VHL causes. Surgery is the most common treatment for conditions that von Hippel-Landau disease may cause. What cancers are associated with von Hippel-Landau disease? Having this condition increases the chance you’ll have one or more of the following kinds of cancer: Clear cell renal carcinoma (ccRCC): This is the most common form of renal cell carcinoma (kidney cancer). Experts estimate 25% to 60% of people with VHL disease have this cancer.  Pancrea...
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Locked-in Syndrome

Locked-in Syndrome Overview Locked-in syndrome (LiS) is a rare neurological disorder that causes paralysis of voluntary muscles, except for those that allow you to move your eyes up and down. People with locked-in syndrome are conscious, alert and have their usual thinking and reasoning abilities. But they can’t show facial expressions, talk or move. People with LiS can hear and typically communicate through purposeful eye movements, blinking or both. They can also use assistive technologies to communicate. Damage to a specific part of your brainstem, known as the pons, causes this syndrome. Anyone can develop LiS. It’s usually the result of underlying disease, such as stroke or a brain tumor. Because LiS may go unrecognized or misdiagnosed, it’s hard for researchers to know the actual number of cases each year. But they agree that it’s rare. Types of this condition Locked-in syndrome has three main types, or forms, including: The classical form : You have total immobility (lack of vol...
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