Weissenbacher-Zweymuller syndrome is an autosomal recessive genetic disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the a2 strand of collagen type XI. [1][2]

It is a collagenopathy, types II and XI disorder.

It causes facial abnormalities, skeletal malformation and occasionally neural tube defects; the skeletal disfigurements resolve to a degree in the course of development.

Mutations in different parts of the gene may lead to deafness or Stickler syndrome type III (eye problems: myopia, retinal detachment and skeletal abnormalities).

It was first characterized in 1964 by G. Weissenbacher and Ernst Zweymüller.[3][4]

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Wilson’s disease or hepatolenticular degeneration 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.[1]

The condition is due to mutations in the Wilson disease protein (ATP7B) gene. A single abnormal copy of the gene is present in 1 in 100 people, who do not develop any symptoms (they are carriers). If a child inherits the gene from both parents, he may develop Wilson’s disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older patients have been described. Wilson’s disease occurs in 1 to 4 per 100,000 people.[1] Wilson’s disease is named after Dr. Samuel Alexander Kinnier Wilson (1878-1937), the British neurologist who first described the condition in 1912.[2]

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.[1] Patients 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 patients, when tested, turn out to have been experiencing symptoms of the condition but haven’t received a diagnosis.[3]

Liver disease may present as tiredness, increased bleeding tendency or confusion (due to hepatic encephalopathy) and portal hypertension. The latter, a condition in which the pressure on the portal vein is markedly increased, leads to esophageal varices (blood vessels in the esophagus) that may bleed in a life-threatening fashion, splenomegaly (enlargement of the spleen) and ascites (accumulation of fluid in the abdominal cavity). On examination, signs of chronic liver disease such as spider naevi (small distended blood vessels, usually on the chest) may be observed. Chronic active hepatitis has caused cirrhosis of the liver in most patients by the time they develop symptoms. While most people with cirrhosis have an increased risk of hepatocellular carcinoma (liver cancer), this risk is relatively very low in Wilson’s disease.[1]

About 5% of all patients are diagnosed only when they develop fulminant acute liver failure, often in the context of a hemolytic anemia (anemia due to the destruction of red blood cells). This leads to abnormalities in protein production (identified by deranged coagulation) and metabolism by the liver. The deranged protein metabolism leads to the accumulation of waste products such as ammonia in the bloodsteam. When these irritate the brain, the patient develops hepatic encephalopathy (confusion, coma, seizures and finally life-threatening swelling of the brain).[1]

About half the patients with Wilson’s have neurological or psychiatric problems. Most patients initially have mild cognitive deterioration and clumsiness, as well as changes in behavior. Specific neurological symptoms then follow, often in the form of parkinsonism (increased rigidity and slowing of routine movements) with or without a typical hand tremor, ataxia (lack of coordination) or dystonia (twisting and repetitive movements of part of the body). Seizures and migraine appear to be more common in Wilson’s disease.[1]

Psychiatric problems due to Wilson’s disease may include behavioral changes, depression, anxiety and psychosis.[1]

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Whipple’s disease is a rare, systemic infectious disease caused by the bacterium Tropheryma whipplei.[1] First described by George Hoyt Whipple in 1907[2][3] 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, and 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.[4] Whipple’s disease is significantly more common in men, with 87% of patients being male.[5] When recognized and treated, Whipple’s disease can usually be cured with long-term antibiotic therapy; untreated the disease is ultimately fatal.

Symptoms of Whipple’s disease are:

Common clinical signs and symptoms of Whipple’s disease include weight loss, diarrhea, joint pain or arthritis, fever, and adenopathy. Diagnosis is made by intestinal biopsy, which reveals presence of the organism as PAS-positive macrophage inclusions. Immunohistochemical staining for antibodies against T. whipplei has been used to detect the organism in a variety of tissues, and a confirmatory PCR-based assay is also available.

Endoscopy of the duodenum and jejunum can reveal pale yellow shaggy mucosa with erythematous eroded patches in patients with classic intestinal Whipple’s disease, and small bowel X-rays may show some thickened folds.

Treatment is with penicillin, ampicillin, tetracycline or co-trimoxazole for 1 -2 years.[4] Any treatment lasting less than a year has an approximate relapse rate of 40%. In the January 4, 2007 issue of the New England Journal of Medicine, Fenollar et al suggest the use of doxycycline with hydroxychloroquine for 12 to 18 months. Sulfonamides (sulfadiazine or sulfamethoxazole) should be added for treatment of neurological symptoms.[5]

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Wilms’ tumor or nephroblastoma is a tumor of the kidneys that typically occurs in children, rarely in adults.[1] Its common name is an eponym, referring to Dr. Max Wilms, the German surgeon (1867–1918) who first described this kind of tumor.[2]

Approximately 500 cases are diagnosed in the U.S. annually. The majority (75%) occur 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.

Pathologically, a triphasic nephroblastoma comprises three elements:

Wilms’ tumor is a malignant tumor containing metanephric blastema, stromal and epithelial derivatives. Characteristic is the presence of abortive tubules and glomeruli surrounded by a spindled cell stroma. The stroma may include striated muscle, cartilage, bone, fat tissue, fibrous tissue. The tumor is compressing the normal kidney parenchyma.

The mesenchymal component may include cells showing rhabdomyoid differentiation. The rhabdomyoid component may itself show features of malignancy (rhabdomyosarcomatous Wilms).

Wilms tumor may be separated into 2 prognostic groups based on pathologic characteristics:

Mutations of the WT1 gene on chromosome 11 are observed in approximately 20% of Wilms tumors.[3][4] At least half of the Wilms tumors with mutations in WT1 also carry mutations in CTNNB1, the gene encoding the proto-oncogene beta-catenin.[5]

A gene on the X chromosome, WTX, is inactivated in up to 30% of Wilms tumor cases, according to research published in 2007.[6]

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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.[1] It is named after Dr. Friedrich Wegener, who described the disease in 1936.[2]

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.[1] Although Wegener’s granulomatosis affects small and medium-sized vessels,[3] it is formally classified as one of the small vessel vasculitides in the Chapel Hill system.[4][5]

Initial signs are protean, and diagnosis can be severely delayed due to the nonspecific nature of the symptoms. Rhinitis is generally the first sign in most patients.[1]

Wegener’s granulomatosis is usually only suspected when a patient has had unexplained symptoms for a long period of time. Determination of ANCAs can aid in the diagnosis, but positivity is not conclusive and negative ANCAs are not sufficient to reject the diagnosis. Cytoplasmic staining ANCAs that react with the enzyme proteinase 3 (cANCA) in neutrophils (a type of white blood cell) are associated with Wegener’s.[1]

If the patient has renal failure or cutaneous vasculitis, these are the most logical organs to obtain a biopsy from. Rarely, thoracoscopic lung biopsy is required. On histopathological examination, a biopsy will show leukocytoclastic vasculitis with necrotic changes and granulomatous inflammation (clumps of typically arranged white blood cells) on microscopy. These granulomas are the main reason for the appellation of “Wegener’s granulomatosis,” although it is not an essential feature. Unfortunately, many biopsies can be nonspecific and 50% provide too little information for the diagnosis of Wegener’s.[1]

Differential diagnosis (alternative possible diagnoses) can be extensive. ANCAs can be positive after the use of certain drugs and other forms of vasculitis can present with very similar symptoms. The saddle-nose deformity may also be seen in relapsing polychondritis, cocaine abuse and in congenital syphilis.

In 1990, the American College of Rheumatology accepted classification criteria for Wegener’s. These criteria were not intended for diagnosis, but for inclusion in randomised controlled trials. Two or more positive criteria have a sensitivity of 88.2% and a specificity of 92.0% of describing Wegener’s.[6]

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A webbed neck, or pterygium colli deformity, is a congenital skin fold that runs along the sides of the neck down to the shoulders. There are many variants.

It is a feature of Turner syndrome[1] and Noonan syndrome,[2] as well as the rarer Klippel-Feil syndrome.[3]

On babies, webbed neck may look like loose folds of skin on the neck. As the child grows, the skin may stretch out to look like there is little or no neck.

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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[1] as well as women between the ages of 20 and 40.[2] Even so, the disease is very rare and fewer than 500 occurrences of the disease have been reported as of 2005,[1] of which around 148 (including both children and adult cases) were documented to have been from between 1960 and 1992.[3] 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[4] 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.[4]

Symptoms include an enlargement in the size of the spleen,[4] 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.[1]

Physical factors may cause ischuria, constipation, as well as numerous spleen-related diseases such as hypersplenism, thrombocytopenia, and lymphoma.[3] Blocking of the arteries and torsion in the spleen can also result in abdominal pain or swelling.[5] However, lack of visible symptoms — except in incidents of abdominal pain — makes the disease difficult for doctors to diagnose,[2] though medical imaging techniques such as medical ultrasonography, magnetic resonance imaging, or computed tomography can be used to confirm its occurrence.

The disorder must be treated through laparoscopic surgery, due to the possibility of blocked arteries in the spleen. The usual treatment is splenopexy, fixation of the spleen, but if there is no blood flow after unwinding the spleen through detorsion then splenectomy must be performed.[2] Although there have been few reported cases of treatment through laparoscopic surgery due to the rarity of the disease, it has been proven to be an effective surgical technique.[6]

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Waardenburg syndrome or Waardenburg-Klein 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.[1][2] The condition he described is now categorized as WS1. Swiss ophthalmologist David Klein also made contributions towards the understanding of the syndrome.[3]

WS2 was identified in 1971, to describe cases where “dystopia canthorum” did not present.[4] WS2 is now split into subtypes, based upon the gene responsible.

Other types have been identified, but they are less common.

Subtypes of the syndrome are traceable to different genetic variations:

There are several other names used. These include Klein-Waardenburg syndrome, Mende’s syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont[5], Van der Hoeve-Waardenburg-Klein syndrome, Waardenburg’s syndrome II, and Vogt’s syndrome.

Types I and II are the most common types of the syndrome, whereas types III and IV are rare. Overall, the syndrome affects perhaps 1 in 42,000 people. 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.

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Wagner’s disease is a familial eye disease of the connective tissue in the eye that causes blindness. Wagner’s disease was originally described in 1938. This disorder is frequently confused with Stickler syndrome, but lacks the systemic features and high incidence of retinal detachments. Inheritance is autosomal dominant.

In 1938 Hans Wagner described 13 members of a Canton of Zurich family with a peculiar lesion of the vitreous and retina. Ten additional affected members were observed by Boehringer et al. in 1960 and 5 more by Ricci in 1961. In Holland Jansen in 1962 described 2 families with a total of 39 affected persons. Alexander and Shea in 1965 reported a family. In the last report, characteristic facies (epicanthus, broad sunken nasal bridge, receding chin) was noted. Genu valgum was present in all. In addition to typical changes in the vitreous, retinal detachment occurs in some and cataract is another complication.

Wagner’s syndrome has been used as a synonym for Stickler’s syndrome. Since there may be more than one type of Wagner syndrome, differentiation from Stickler’s syndrome is difficult, and doctors disagree as to whether these are the same entity. It may be that Wagner has skeletal effects, but not the joint and hearing problems of Stickler’s syndrome. Blair et al. in 1979 concluded that the Stickler and Wagner syndromes are the same disorder. However, retinal detachment, which is a feature of Stickler’ syndrome, was not noted in any of the 28 members of the original Swiss family studied by Wagner in 1938 and later by Boehringer in 1960 and Ricci in 1961.

An exhaustive genetics study of blood from 54 patients found everyone with Wagner’s disease has the same eight “markers,” a genetic fingerprint that sets them apart from those with healthy eyes.

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.

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WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor (a tumor of the kidneys), Aniridia (absence of the colored part of the eye, the iris), Genitourinary anomalies, and mental Retardation.[1] The G is sometimes instead given as “gonadoblastoma,” since the genitourinary anomalies are tumors of the gonads (testes or ovaries).[2]

A subset of WAGR syndrome patients shows severe childhood obesity; the acronym WAGRO (O for obesity) has been used to describe this category.[3]

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.[3]

WAGR complex, Wilms tumor-aniridia syndrome, aniridia-Wilms tumor syndrome.

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.[4][1] Other common eye defects include cataracts and ptosis. About 50% of patients develop Wilms’ tumor.

WAGR syndrome is caused by a mutation on chromosome 11 in the 11p13 region.[3] Specifically, several genes in this area are deleted, including the PAX6 ocular development gene and the Wilms’ tumor gene (WT1).[5] Abnormalities in WT1 may also cause genitourinary anomalies. Mutations in the PAX6 gene have recently been shown to not only cause ocular abnormalities, but also problems in the brain and pancreas.[5][6][7][8]

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