Here is the list of the diseases that start with letter “W“:
- Waardenburg syndrome
- Wagner’s disease
- WAGR syndrome
- Waldmann disease
- Wandering spleen
- Warkany syndrome
- Weaver syndrome
- Wegener’s granulomatosis
- Werner syndrome
- West Nile virus
- West syndrome
- Whipple’s disease
- Williams syndrome
- Wilms’ tumor
- Wilson’s disease
- Winchester syndrome
- Wiskott–Aldrich syndrome
- Wolman disease
Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies. Waardenburg syndrome is named after Dutch ophthalmologist Petrus Johannes Waardenburg (1886–1979), who described the syndrome in detail in 1951. The condition he described is now categorized as WS1. Swiss ophthalmologist David Klein also made contributions towards the understanding of the syndrome. WS2 was identified in 1971, to describe cases where “dystopia canthorum” did not present. WS2 is now split into subtypes, based upon the gene responsible. Other types have been identified, but they are less common.
There are five major and five minor diagnostic criteria for Waardenburg syndrome.
– sensorineural hearing loss
– iris pigmentary abnormality (two eyes different color or iris bicolor or characteristic brilliant blue iris)
– hair hypopigmentation (white forelock or white hairs at other sites on the body)
– dystopia canthorum (lateral displacement of inner canthi)
– first‐degree relative previously diagnosed with Waardenburg syndrome
– skin hypopigmentation (congenital leukoderma/white skin patches)
– medial eyebrow flare (synophrys)
– broad nasal root
– hypoplasia alae nasi
– premature graying of the hair (before age 30).
The overall incidence is ~1/42,000 — 1/50,000 people. Types I and II are the most common types of the syndrome, whereas types III and IV are rare. Type 4 is also known as Waardenburg‐Shah syndrome (association of Waardenburg syndrome with Hirschsprung disease). Type 4 is rare with only 48 cases reported up to 2002. About 1 in 30 students in schools for the deaf have Waardenburg syndrome. All races and both sexes are affected equally. The highly variable presentation of the syndrome makes it difficult to arrive at precise figures for its prevalence.
There is currently no treatment or cure for Waardenburg syndrome. The symptom most likely to be of practical importance is deafness, and this is treated as any other irreversible deafness would be. In marked cases there may be cosmetic issues. Other abnormalities (neurological, structural, Hirschsprung disease) associated with the syndrome are treated symptomatically.
Wagner’s disease is a familial disease of the connective tissue in the eye that can cause reduced visual acuity. Wagner’s disease was originally described in 1938. This disorder was frequently confused with Stickler syndrome, but lacks the systemic features and high incidence of retinal detachments. Inheritance is autosomal dominant.
Wagner’s syndrome has for a long time been used as a synonym for Stickler’s syndrome. However since the gene that is responsible for Wagner disease (and Erosive Vitreoretinopathie) is known (2005), the confusion has ended. For Wagner disease is the Versican gene 5q14.3 responsible. For Stickler there are 4 genes found: COL2A1 (75% of Stickler cases), COL11A1 (also Marshall syndrome), COL11A2 (non-ocular Stickler) and COL9A1 (recessive Stickler).
The gene involved helps regulate how the body makes collagen, a sort of chemical glue that holds tissues together in many parts of the body. This particular collagen gene only becomes active in the jelly-like material that fills the eyeball; in Wagner’s disease this “vitreous” jelly grabs too tightly to the already weak retina and pulls it away.
Most people with the disease need laser repairs to the retina, and about 60 per cent need further surgery.
WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour (a tumour of the kidneys), Aniridia (absence of the coloured part of the eye, the iris), Genitourinary anomalies, and mental Retardation. The G is sometimes instead given as “gonadoblastoma,” since the genitourinary anomalies are tumours of the gonads (testes or ovaries).
A subset of WAGR syndrome patients shows severe childhood obesity; the acronym WAGRO (O for obesity) has been used to describe this category. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
Newborn children with WAGR syndrome are soon noted to have aniridia. The clinical suspicion for WAGR may be increased with the presence of other genital anomalies, though genitourinary anomalies are not always present, particularly in girls.
In older children, clinical diagnosis of the syndrome can be made when aniridia and one of the other features are present. It must be noted that while aniridia is rarely absent in WAGR syndrome, cases have been reported without it. Chromosomal analysis is necessary for definitive diagnosis. Other common eye defects include cataracts and ptosis. About 50% of patients develop Wilms’ tumour.
Children with WAGR syndrome receive regular (3-4 monthly) kidney surveillance for Wilm’s tumour until at least the age of 6–8 years and thereafter remain under some follow-up because of the risk of late onset nephropathy (40% of patients over the age of 12 years). Females with WAGR syndrome may have streak ovaries, which can increase their risk for gonadoblastoma. Malformations of the vagina and/or uterus may also be present.
Waldmann disease also known as Waldmann’s disease and Primary intestinal lymphangiectasia, is a rare disease characterized by enlargement of the lymph vessels supplying the lamina propria of the small intestine.
Although its prevalence is unknown, it being classified as a “rare disease” means that less than 200,000 of the population of the United States are affected by this condition and its subtypes.
The illness is usually caused by lymphatic vessels that were misshaped at birth, causing obstruction and subsequent enlargement. The condition can also be a result of other illnesses such as constrictive pericarditis and pancreatitis. The disease is diagnosed by doing a biopsy of the affected area. Severity of the disease is then determined by measuring alpha1-antitrypsin proteins in a stool sample.
Symptoms of the disease include diarrhea, nausea, swelling of the legs, protein-losing enteropathy, immunodeficiency and loss of lymphatic fluid into the intestines. It is usually diagnosed before the patient is 3 years old, but it is sometimes diagnosed in adults.
Once the main cause of the disease is treated, a diet of low-fat and high-protein aliments, supplemental calcium and certain vitamins has been shown to reduce symptom effects. This diet, however, is not a cure. If the diet is stopped, the symptoms will eventually reappear.
Wandering spleen (or Pelvic spleen) is a rare medical disease caused by the loss or weakening of the ligaments that help to hold the spleen.
Wandering spleen is most commonly diagnosed in young children as well as women between the ages of 20 and 40. Even so, the disease is very rare and fewer than 500 occurrences of the disease have been reported as of 2005, of which around 148 (including both children and adult cases) were documented to have been from between 1960 and 1992. Less than 0.5% of all splenectomies, surgical removal of the spleen, are performed due to having this disorder.
Characteristics of the disorder include the loss, weakening, or malformation of the ligaments that help to keep the spleen located in the upper left part of the abdomen. Though not a genetic disease, wandering spleen is often found at birth. It can occur in adults as the result of injuries and other similar conditions that cause the ligaments to weaken, such as connective tissue disease or pregnancy.
Symptoms include an enlargement in the size of the spleen, or a change from the spleen’s original position to another location, usually in either other parts of the abdomen or into the pelvis. This ability to move to other locations is commonly attributed to the spleen’s pedicle being abnormally long.
Physical factors may cause ischuria, constipation, as well as numerous spleen-related diseases such as hypersplenism, thrombocytopenia, and lymphoma. Blocking of the arteries and torsion in the spleen can also result in abdominal pain or swelling. However, lack of visible symptoms — except in incidents of abdominal pain — makes the disease difficult for doctors to diagnose, though medical imaging techniques such as medical ultrasonography, magnetic resonance imaging, or computed tomography can be used to confirm its occurrence.
Warkany syndrome Warkany syndrome 1 is an X-chromosome linked recessive genetic condition originally described by Warkany in 1961 as part of an article on intrauterine growth retardation. The family history was consistent with X-linked recessive inheritance of intrauterine growth retardation and small head size, but these features are not unique to this condition and no linkage to a specific gene was ever established. In fact, the condition appears to have been abandoned, given that the OMIM number (308400) assigned to it and listed in a review article on X-linked mental retardation has been removed from the OMIM database. Furthermore, this condition is no longer mentioned in a more recent review of X-linked mental retardation.
Warkany syndrome 2, or simply “Warkany syndrome”, is used by some authors when referring to chromosome 8 trisomy syndrome (Trisomy 8). Complete trisomy 8 causes severe effects on the developing fetus and is almost always perinatal lethal. Trisomy 8 mosaicism is less severe and individuals with this condition are more likely to survive. Trisomy 8 is associated with a characteristic and recognizable pattern of developmental abnormalities. The type and severity of symptoms are dependent upon the location and proportion of trisomy 8 cells compared to normal cells.
Wart is generally a small, rough growth, typically on a human’s hands or feet but often other locations, that can resemble a cauliflower or a solid blister. They are caused by a viral infection, specifically by one of the many types of human papillomavirus. There are as many as 10 varieties of warts, the most common considered to be mostly harmless. It is possible to get warts from others; they are contagious and usually enter the body in an area of broken skin. They typically disappear after a few months but can last for years and can recur.
A range of types of wart have been identified, varying in shape and site affected, as well as the type of human papillomavirus involved. These include:
Common wart (Verruca vulgaris), a raised wart with roughened surface, most common on hands, but can grow anywhere on the body;
Flat wart (Verruca plana), a small, smooth flattened wart, flesh-coloured, which can occur in large numbers; most common on the face, neck, hands, wrists and knees;
Filiform or digitate wart, a thread- or finger-like wart, most common on the face, especially near the eyelids and lips;
Genital wart (venereal wart, Condyloma acuminatum, Verruca acuminata), a wart that occurs on the genitalia.
Mosaic wart, a group of tightly clustered plantar-type warts, commonly on the hands or soles of the feet;
Periungual wart, a cauliflower-like cluster of warts that occurs around the nails.
Plantar wart (verruca, Verruca plantaris), a hard sometimes painful lump, often with multiple black specks in the center; usually only found on pressure points on the soles of the feet;
Warts are caused by the human papilloma virus (HPV). There are about 130 known types of human papilloma viruses. HPV infects the squamous epithelium, usually of the skin or genitals, but each HPV type is typically only able to infect a few specific areas on the body. Many HPV types can produce a benign growth, often called a “wart” or “papilloma”, in the area they infect.
Weaver syndrome (also called Weaver-Williams syndrome) is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. It was first described by Weaver in 1974. It can be associated with NSD1. A second gene Histone-lysine N-methyltransferase has also been associated with this disease.
Wegener’s granulomatosis more recently granulomatosis with polyangiitis (Wegener’s) (GPA), is an incurable form of vasculitis (inflammation of blood vessels) that affects the nose, lungs, kidneys and other organs. Due to its end-organ damage, it is life-threatening and requires long-term immunosuppression. Five-year survival is up to 87%, with some of the mortality due to toxicity of treatment. It is named after Dr. Friedrich Wegener, who described the disease in 1936. In 2011, three professional bodies proposed a more descriptive name.
Wegener’s granulomatosis is part of a larger group of vasculitic syndromes, all of which feature an autoimmune attack by an abnormal type of circulating antibody termed ANCAs (antineutrophil cytoplasmic antibodies) against 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.
Before steroid treatment became available, mortality within one year was over 90%, with average survival being 5 months. Steroids prolonged average survival to 8 months. The introduction of cyclophosphamide (CYC) in the 1970s was a major breakthrough. Five-year survival is now 87%.
Initial treatment is generally with corticosteroids and oral CYC, 1 mg/kg/day and 2 mg/kg/day, respectively. Occasionally CYC is given in monthly intravenous (IV) doses. Monitoring of the white blood count is essential during CYC therapy. Once remission is attained (normally 3 to 6 months), treatment is frequently changed to azathioprine or methotrexate, which are less toxic drugs. Total duration of therapy should be at least one year, or longer in high risk patients. Corticosteroids are tapered to a low maintenance dose, 5–10 mg/day. Plasmapheresis may be beneficial in severe disease or pulmonary hemorrhage. Experience with other treatment agents is very limited.
Werner syndrome is a very rare, autosomal recessive disorder characterized by the appearance of premature aging. Werner syndrome more closely resembles accelerated aging than any other segmental progeria, so it is often referred to as a progeroid syndrome, as it partly mimics the symptoms of progeria. Although the symptoms manifest after 10 years, the earliest person diagnosed was six years old. Following puberty, they age rapidly, so that by age 40, they often appear several decades older.
The signs of Werner syndrome are: lack of teenage growth spurt, graying of hair, hoarseness of the voice, thickening of the skin, diabetes mellitus, cataracts, hypogonadism, cancer, and atherosclerosis. Werner causes a “bird-like” pinch to the nose.
In people with Werner syndrome, death usually occurs by myocardial infarction or cancer.
In 2010, vitamin C supplementation was found to reverse the premature aging and several tissue dysfunctions in a genetically modified mouse model of the disease. Vitamin C supplementation also appeared to normalize several age-related molecular markers such as the increased levels of the transcription factor NF-κB. Vitamin C decreases activity of genes activated in human Werner syndrome, and increases gene activity involved in tissue repair. Vitamin C supplementation is suspected to be beneficial in the treatment of human Werner syndrome, although there was no evidence of anti-aging activity in nonmutant mice.
West Nile virus is a virus of the family Flaviviridae. Part of the Japanese encephalitis (JE) antigenic complex of viruses, it is found in both tropical and temperate regions. It mainly infects birds, but is known to infect humans, horses, dogs, cats, bats, chipmunks, skunks, squirrels, domestic rabbits, crows, robins, crocodiles and alligators. The main route of human infection is through the bite of an infected mosquito. Approximately 90% of West Nile Virus infections in humans are without any symptoms.
The West Nile Virus produces one of three different outcomes in humans. The first is an asymptomatic infection; the second is a mild febrile syndrome termed West Nile Fever; the third is a neuroinvasive disease termed West Nile meningitis or encephalitis. The population proportion of these three states is roughly 110:30:1.
The second, febrile stage has an incubation period of 2 to 8 days followed by fever, headache, chills, diaphoresis (excessive sweating), weakness, lymphadenopathy (swollen lymph nodes), drowsiness, pain in the joints and symptoms like those of influenza or the flu. Occasionally there is a short-lived truncal rash and some patients experience gastrointestinal symptoms including nausea, vomiting, loss of appetite, or diarrhea. Symptoms are generally resolved within 7 to 10 days, although fatigue can persist for some weeks and lymphadenopathy up to two months.
The more dangerous encephalitis is characterized by similar early symptoms but also a decreased level of consciousness, sometimes approaching near-coma. Deep tendon reflexes are hyperactive at first, later diminished. There are also extrapyramidal disorders. Recovery is marked by a long convalescence with fatigue.
There is no way to accurately measure the number of worldwide cases at this time. However, the United States keeps records of West Nile infection cases. In 2009, there were 663 cases. Three hundred and thirty-five of these cases were encephalitis or meningitis infections, a reaction to the virus that approximately 1 in 150 people who get the virus will show. Three hundred two cases were filed for West Nile fever, the most likely symptom of the virus. Twenty six cases were unspecified. The state of Texas had the most cases, with 104 total. The total mortality rate for 2009 was 30 deaths of the 663 reported serious cases. That is a 4.5% casualty rate, but only of the severe infections.
West syndrome is an uncommon to rare epileptic disorder in infants. It is named after the English physician, William James West (1793–1848), who first described it in an article published in The Lancet in 1841. The original case actually described his own son, James Edwin West (1840–1860). Other names for it are “Generalized Flexion Epilepsy”, “Infantile Epileptic Encephalopathy”, “Infantile Myoclonic Encephalopathy”, “jackknife convulsions”, “Massive Myoclonia” and “Salaam spasms”. The term “infantile spasms” can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. West syndrome is the triad of infantile spasms, a pathognomonic EEG pattern (called hypsarrhythmia), and developmental regression – although the international definition requires only two out of these three elements.
It is still unknown which bio-chemical mechanisms lead to the occurrence of West syndrome. It is conjectured that it is a malfunction of neurotransmitter function, or more precisely, a malfunction in the regulation of the GABA transmission process. Another possibility being researched is a hyper-production of the Corticotropin-releasing hormone (CRH). It is possible that more than one factor is involved. Both hypotheses are supported by the effect of certain medications used to treat West syndrome.
Compared with other forms of epilepsy, West syndrome is difficult to treat. To raise the chance of successful treatment and keep down the risk of longer-lasting effects, it is very important that the condition is diagnosed as early as possible and that treatment begins straight away. However, there is no guarantee that therapy will work even in this case.
Whipple’s disease is a rare, systemic infectious disease caused by the bacterium Tropheryma whipplei. First described by George Hoyt Whipple in 1907 and commonly considered a gastrointestinal disorder, Whipple’s disease primarily causes malabsorption but may affect any part of the body including the heart, lungs, brain, joints, skin, and the eyes. Weight loss, diarrhea, joint pain, and arthritis are common presenting symptoms, but the presentation can be highly variable and approximately 15% of patients do not have these classic signs and symptoms. Whipple’s disease is significantly more common in men, with 87% of the patients being male. When recognized and treated, Whipple’s disease can usually be cured with long-term antibiotic therapy; untreated the disease is ultimately fatal.
he most common symptoms are diarrhea, abdominal pain, weight loss and joint pains. Sometimes, the joint pains occur many years before any digestive tract symptoms develop; they tend to involve the large joints but can occur in any pattern and tend not to damage the joint surface to the point that the joint becomes deformed. Fever and chills occur in a small proportion of people. Darkening of the skin occurs in almost half; some also have skin nodules. Various eye problems, such as uveitis, may occur; this is typically associated with deteriorating vision and pain in the affected eye.
Treatment is with penicillin, ampicillin, tetracycline or co-trimoxazole for one to two years. Any treatment lasting less than a year has an approximate relapse rate of 40%.
Williams syndrome is a rare neurodevelopmental disorder characterized by a distinctive, “elfin” facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia.
The most common symptoms of Williams syndrome are mental disability, heart defects, and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy (failure to thrive) and low muscle tone. Individuals with Williams Syndrome tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge.
There is no cure for Williams syndrome. Suggestions include avoiding taking extra calcium and vitamin D, and treating high levels of blood calcium, if present. Blood vessel narrowing can be a significant health problem as well, and is treated on an individual basis. Physical therapy is helpful to patients with joint stiffness and low muscle tone. Developmental and speech therapy can also help children and increase the success of their social interactions. Other treatments are based on a patient’s particular symptoms.
Wilms’ tumor is cancer of the kidneys that typically occurs in children, rarely in adults. Its common name is an eponym, referring to Dr. Max Wilms, the German surgeon (1867–1918) who first described this kind of tumor.
Approximately 500 cases are diagnosed in the U.S. annually. The majority (75%) occurs in otherwise normal children; a minority (25%) is associated with other developmental abnormalities. It is highly responsive to treatment, with about 90% of patients surviving at least five years.
Typical symptoms are: an abnormally large abdomen, abdominal pain, fever, nausea and vomiting, blood in the urine (in about 20% of cases), high blood pressure in some cases.
In general, this type of cancer is curable. If the tumor is only in the kidney (typical), it can be removed along with the whole kidney (a nephrectomy). During the operation, the surgeon checks if the other kidney has a tumor. If there are tumors in both kidneys, a piece of the tumor will be removed. After the surgery, the child is given some chemotherapy drugs like Dactinomycin (trade name Cosmegen).
Children 16 years old or older have higher mortality rates within their stages. This is due to them being treated less aggressively and consistently.
Wilson’s disease is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.
The main sites of copper accumulation are the liver and the brain, and consequently liver disease and neuropsychiatric symptoms are the main features that lead to diagnosis. People with liver problems tend to come to medical attention earlier, generally as children or teenagers, than those with neurological and psychiatric symptoms, who tend to be in their twenties or older. Some are identified only because relatives have been diagnosed with Wilson’s disease; many of these, when tested, turn out to have been experiencing symptoms of the condition but haven’t received a diagnosis.
Wilson’s disease may be suspected on the basis of any of the symptoms mentioned above, or when a close relative has been found to have Wilson’s. Most have slightly abnormal liver function tests such as a raised aspartate transaminase, alanine transaminase and bilirubin level. If the liver damage is significant, albumin may be decreased due to an inability of damaged liver cells to produce this protein; likewise, the prothrombin time (a test of coagulation) may be prolonged as the liver is unable to produce proteins known as clotting factors.
Winchester syndrome in a rare congenital connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, a coarse face, dissolution of the carpal and tarsal bones (in the hands and feet respectively) and osteoporosis. Appearances resembled rheumatoid arthritis. Increased uronic acid was demonstrated in cultured fibroblasts from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a mucopolysaccharidosis.
In 2005 a patient with Winchester syndrome was shown to have mutations in the matrix metalloproteinase 2 (MMP2) gene. A 2006 study showed other mutations in the same gene, and observed that Winchester syndrome is probably part of a continuum that also includes Torg syndrome and nodulosis-arthropathy-osteolysis syndrome (NAO).
Wiskott–Aldrich syndrome is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich’s original description in 1954. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present similar but less severe symptoms and are caused by mutations of the same gene.
Due to its mode of inheritance, the overwhelming majority are male. The first signs of WAS are usually petechiae and bruising, resulting from thrombocytopenia (low platelet counts). Spontaneous nose bleeds and bloody diarrhea are common. Eczema develops within the first month of life. Recurrent bacterial infections develop by three months. Splenomegaly is not an uncommon finding. The majority of WAS children develop at least one autoimmune disorder, and malignancies (mainly lymphoma and leukemia) develop in up to a third of patients.
Treatment of Wiskott–Aldrich syndrome is currently based on correcting symptoms. Aspirin and other non-steroidal anti-inflammatory drugs should be avoided, since these may interfere with platelet function. A protective helmet can protect children from bleeding into the brain which could result from head injuries. For severely low platelet counts, patients may require platelet transfusions or a splenectomy. For patients with frequent infections, intravenous immunoglobulins (IVIG) can be given to boost the immune system. Anemia from bleeding may require iron supplementation or blood transfusion.
Wolman disease is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain lipids inside the cells. Deficiency of the LAL/LIPA enzyme causes a build-up of fat in the liver, gut and other parts of the body.
The signs and symptoms of Wolman disease usually appear shortly after birth, typically in the first few weeks of life. Affected infants may have the following: Feeding difficulties with frequent vomiting; Diarrhea (loose frequent stools); Swelling of the abdomen (abdominal distention); Enlargement of the liver (hepatomegaly) and spleen (splenomegaly); Failure to gain weight or sometimes weight loss.
The accumulation of fat in the walls of the gut in Wolman disease leads to serious digestive problems including malabsorption, a condition in which the gut fails to absorb nutrients and calories from food. The malabsorption associated with Wolman disease is often accompanied by persistent and often forceful vomiting, frequent diarrhea, foul-smelling and fatty stools (steatorrhea). Because of these digestive complications, affected infants usually fail to grow and gain weight at the expected rate for their age (failure to thrive).