Disease – Page 208 – CheckOrphan

WAGR syndrome

WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and intellectual disability (formerly referred to as mental retardation). A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome.

Sporadic aniridia mutations may affect the WT1 region adjacent to the AN2 aniridia region, causing a kidney cancer called nephroblastoma (Wilms tumor). These patients often also have genitourinary abnormalities and intellectual disability (WAGR syndrome).

People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed in children but is sometimes seen in adults.

Walbaum Titran Durieux Crepin syndrome

Walbaum Titran Durieux Crepin syndrome: A syndrome characterised by multiple abnormalities.

Waldenstrom macroglobulinemia

Waldenström macroglobulinemia is a rare blood cell cancer characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow. This condition is classified as a lymphoplasmacytic lymphoma. The abnormal cells have characteristics of both white blood cells (lymphocytes) called B cells and of more mature cells derived from B cells known as plasma cells. These abnormal cells produce excess amounts of IgM, a type of protein known as an immunoglobulin; the overproduction of this large protein is how the condition got its name ("macroglobulinemia").

Waldenström macroglobulinemia usually begins in a person's sixties and is a slow-growing (indolent) cancer. Some affected individuals have elevated levels of IgM and lymphoplasmacytic cells but no symptoms of the condition; in these cases, the disease is usually found incidentally by a blood test taken for another reason. These individuals are diagnosed with smoldering (or asymptomatic) Waldenström macroglobulinemia. It can be several years before this form of the condition progresses to the symptomatic form.

People with Waldenström macroglobulinemia have an increased risk of developing other cancers of the blood or other tissues.

Waldmann disease

Primary intestinal lymphangiectasia (PIL), also called Waldmann's disease, is a disorder that causes protein to be lost from the intestines. In Waldmann's disease, the lymph vessels that supply the lining (lamina propria) of the small intestine are abnormally enlarged. This causes lymph (which contains protein) to leak into the intestine.

Walker Dyson syndrome

Walker Dyson syndrome: A syndrome that is characterised by mental retardation, aniridia and vision problems.

Wallenberg’s syndrome

Lateral medullary syndrome (also called Wallenberg's syndrome and posterior inferior cerebellar artery syndrome) is a disease in which the patient has difficulty with swallowing or speaking or both owing to one or more patches of dead tissue (known as an infarct) caused by interrupted blood supply to parts of the brain.

Wallerian degeneration

Wallerian degeneration: A syndrome that is characterised by the degeneration of the peripheral nerve axon distal to its site of transection in the central nervous system.

Wandering spleen

Wandering spleen: A very rare birth defect where the structures (ligaments) that hold the spleen in position are absent or not developed properly which allows the spleen to move around in the abdominal cavity.

Warburg Sjo Fledelius syndrome

Warburg Sjo Fledelius syndrome: A syndrome that is characterised by visual and neurological problems as well as microgenitalia.

Warburton Anyane Yeboa syndrome

Warburton Anyane Yeboa syndrome: A syndrome that is characterised by the occurrence of aneuploidy that can be manifested as monosomies or trisomies

Warfarin syndrome

Warfarin syndrome (medical condition): Various physical and other abnormalities that can result from the use of the drug Warfarin during the first trimester of pregnancy.

Warm-reacting-antibody hemolytic anemia

Warm-reacting-antibody hemolytic anemia: A rare autoimmune condition where the body's defense system attacks and destroys red blood cells. The onset of the condition is triggered by temperatures 37ºC or lower. The severity of the disorder is variable.

Warman Mulliken Hayward syndrome

Warman Mulliken Hayward syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Warman Mulliken Hayward syndrome, or a subtype of Warman Mulliken Hayward syndrome, affects less than 2, people in the US population. This syndrome is a form of craniosynostosis.

Warthin’s tumor

Warthin's tumor or Warthin tumour, also known as papillary cystadenoma lymphomatosum, is a type of benign tumor of the salivary glands.

Waterhouse–Friderichsen syndrome

Waterhouse-Friderichsen syndrome (WFS) is a disease of the adrenal glands most commonly caused by the bacterium Neisseria meningitidis. The infection leads to massive hemorrhage into one or (usually) both adrenal glands.[1] It is characterized by overwhelming bacterial infection meningococcemia, low blood pressure and shock, disseminated intravascular coagulation (DIC) with widespread purpura, and rapidly developing adrenocortical insufficiency.

Watermelon stomach

Gastric antral vascular ectasia (GAVE) is an uncommon cause of chronic gastrointestinal bleeding or iron deficiency anemia. The condition is associated with dilated small blood vessels in the antrum, or the last part of the stomach. It is also called watermelon stomach because streaky long red areas that are present in the stomach may resemble the markings on watermelon. GAVE is associated with a number of conditions, including portal hypertension, chronic renal failure, and collagen vascular diseases, particularly scleroderma. The endoscopic appearance of GAVE is similar to portal hypertensive gastropathy. GAVE is treated with treatment through the endoscope, including argon plasma coagulation and electrocautery. Other medical treatments have been tried and include estrogen and progesterone therapy and anti-fibrinolytic drugs such as tranexamic acid.

Watson syndrome

Watson syndrome (medical condition): A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.

WDHA syndrome

WDHA syndrome (medical condition): A syndrome characterized by watery diarrhea, hypokalemia and achlorhydria.

Weaver Johnson syndrome

Weaver Johnson syndrome: A syndrome that is characterised by craniosynostosis and cleft lip.

Weaver like syndrome

A rare genetic syndrome characterized by a large mouth, unusual facial features, skeletal anomalies and other abnormalities. The disorder is similar to another genetic disorder called Weaver syndrome but tends to involve endocrinologic abnormalities as well.

Weaver syndrome

Weaver syndrome is a rare congenital disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation, and distinctive craniofacial, skeletal, and neurological abnormalities. It was first described by Dr. David Weaver in 1974.

Weaver Williams syndrome

Weaver Williams syndrome: Any condition that affects the testicles.

Weber syndrome

Weber's syndrome (superior alternating hemiplegia) is a form of stroke characterized by the presence of an oculomotor nerve palsy and contralateral hemiparesis or hemiplegia. It is caused by midbrain infarction as a result of occlusion of the paramedian branches of the posterior cerebral artery or of basilar bifurcation perforating arteries. This lesion is usually unilateral and affects several structures in the midbrain including: substantia nigra, corticospinal and corticobulbar tracts, and the oculomotor nerve fibers. The lesioned substantia nigra causes contralateral parkinsonism because its dopaminergic projections to the basal ganglia innervate the contralateral hemisphere motor field. The corticospinal fibers affected produce contralateral hemiparesis and typical upper motor neuron findings. Damage to the corticobulbar tract will produce difficulty with contralateral lower facial muscles and hypoglossal nerve functions. The oculomotor nerve fibers that are affected lead to ipsilateral oculomotor nerve palsy with a drooping eyelid and fixed wide pupil pointed down and out. The oculomotor damage will likely lead to diplopia.

Weber-Christian disease

Weber-Christian disease is a skin condition that features recurring inflammation in the fat layer of the skin. The involved areas of skin manifest as recurrent crops of erythematous, sometimes tender, edematous subcutaneous nodules. The lesions are symmetric in distribution, and the thighs and lower legs are affected most frequently. Malaise, fever, and arthralgias frequently occur. Nausea, vomiting, abdominal pain, weight loss, and hepatomegaly may also occur. Because its etiology is unknown, Weber-Christian disease is often referred to as idiopathic lobular panniculitis.

Webster Deming syndrome

Webster Deming syndrome: A craniofrontonasal dysplasia that is x-linked in inheritance.

Wegener’s Granulomatosis

Wegener's granulomatosis is a form of vasculitis that affects the lungs, kidneys and other organs. Due to its end-organ damage, it can be a serious disease that requires long-term immune suppression. It is named after Dr. Friedrich Wegener, who described the disease in 1936. Wegener's granulomatosis is part of a larger group of vasculitic syndromes, all of which feature the presence of an abnormal type of circulating antibody termed ANCAs (antineutrophil cytoplasmic antibodies) and affect small and medium-size blood vessels. Apart from Wegener's, this category includes Churg-Strauss syndrome and microscopic polyangiitis. Although Wegener's granulomatosis affects small and medium-sized vessels, it is formally classified as one of the small vessel vasculitides in the Chapel Hill system.

Diseases