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...
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....