White sponge nevus, also known as Cannon's disease or Hereditary leukokeratosis of mucosa, appears to follow a hereditary pattern as an autosomal dominant trait. Although it is congenital in most cases, it can occur in childhood or adolescence. A condition characterized by the presence of white plaques in the mouth and sometimes in the anal and vaginal lining.
Also known as Meliodosis, is an infectious disease caused by the gram negative bacterium, Burkholderia pseudomallei, found in soil and water.
It is closely related to Burkholderia mallei which causes glanders.
The disease is endemic in parts of southeast asia, taiwan, and northern australia. Northeast Thailand has the highest incidence of meliodosis recorded in the world (21.3 cases per 100,000 people per year).
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whooping cough is a highly contagious bacterial disease. Initially symptoms are usually similar to those of the common cold with a runny nose, fever, and mild cough. This is then followed by weeks of severe coughing fits. Following a fit of coughing a high-pitched whoop sound or gasp may occur as the person breathes in. The coughing may last for more than a hundred days or ten weeks. A person may cough so hard they vomit, break ribs, or become very tired from the effort. Children less than one year old may have little or no cough and instead have periods where they do not breathe. The period of time between infection and the onset of symptoms is usually seven to ten days. Disease may occur in those who have been vaccinated but symptoms are typically milder
A rare disorder involving muscle weakness and wasting, foot deformities, mental retardation and face muscle anomalies.
A syndrome which is characterised by the association of symptoms such as abnormal facies, short stature, and psychomotor retardation.
A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities.
A syndrome characterised by a number of congenital symptoms
A rare birth disorder involving hearing loss, fusion of vertebrae and eye movement abnormalities. A syndrome characterized by the combination of congenital deafness, Duane syndrome (eye retraction), and fusion of the neck vertebrae (Klippel-Feil anomaly). Wildervanck syndrome is limited, or almost completely limited, to females. The syndrome is probably due to polygenic inheritance with limitation to females and lethality for males.
A syndrome that is characterised by multiple congenital abnormalities
A syndrome characterised by cataracts with microphthalmia and septal defect.
Willebrand disease is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions. It arises from a qualitative or quantitative deficiency of von Willebrand factor , a multimeric protein that is required for platelet adhesion. It is known to affect humans and dogs. There are four types of hereditary WD. Other factors including ABO blood groups may also play a part in the severity of the condition. A bleeding disorder characterised by prolonger bleeding time.
A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate.
Williams syndrome (WS, also known as Williams–Beuren syndrome,WBS), 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; profound visuo-spatial impairments; and cardiovascular problems, such as supravalvular aortic stenosis and transient high blood calcium.
It is caused by a deletion of about 26 genes from the long arm of chromosome 7. It occurs in 1 in 7,500 to 1 in 20,000 births. The syndrome was first identified in 1961 by New Zealander J.C.P. Williams.
A syndrome that is characterised by the occurrence of Wilms tumor with pseudohermaphroditism.
A condition that is characterised by bilateral aplasia of the kidneys and wilms tumor.
Wilms' tumor or nephroblastoma is a tumor of the kidneys that typically occurs in children about 3 years old, rarely in children older than 15 years of age and 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 United States annually. The majority of cases (75%) occur in otherwise normal children; a minority (25%) is associated with other developmental abnormalities. Moreover, Wilms' tumor is relatively more common in blacks than in whites and is rare in East Asians. Estimates suggest 6-9 cases per million person years in whites, 3-4 cases per million person years in East Asians and more than 10 cases per million person years among black populations. The Wilms' tumor is highly responsive to treatment, with about 90% of patients surviving at least five years.
Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.
Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and any excess is excreted through bile — a substance produced in your liver.
But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.
Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling.
Nervous system or psychiatric problems are often the initial features in individuals diagnosed in adulthood and commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings.
In many individuals with Wilson disease, copper deposits in the front surface of the eye (the cornea) form a green-to-brownish ring, called the Kayser-Fleischer ring, that surrounds the colored part of the eye. Abnormalities in eye movements, such as a restricted ability to gaze upwards, may also occur.
A condition that is characterised by mental retardation with gynecomastia and obesity.
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
A syndrome that is characterised by microcephaly with mental retardation and cardiomyopathy.
A syndrome which is characterised by joint contractures and facial abnormalities.
A congenital syndrome characterised by multiple birth defects and dysmorphic features
A syndrome that is characterised by the occurrence of anotia, upslanted fissures and structural synostosis.
Wiskott Aldrich syndrome (WAS) is a condition characterized by immunodeficiency and reduced ability to form blood clots. It primarily affects males.
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.
A syndrome that is characterised by the occurrence of nail dysplasia and tooth abnormalities due to a mutation in the MSX1 gene.
A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech.
A form of amyloidosis that is inherited from the parents.
Wolcott-Rallison syndrome (medical condition): A very rare genetic condition characterized primarily by the onset of diabetes mellitus during infancy and epiphyseal dysplasia (abnormal joint development).
Wolf-Hirschhorn syndrome, also known as deletion 4p and 4p- syndrome was first described in 1961 by the Americans Herbert L. Cooper and Kurt Hirschhorn, and thereafter gained worldwide attention by publications by the German Ulrich Wolf, and Hirschhorn and their co-workers, specifically their articles in the German scientific magazine 'Humangenetik'.It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4.