Diseases

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

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.

Winchester syndrome

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

Wisconsin syndrome

A syndrome that is characterised by the occurrence of anotia, upslanted fissures and structural synostosis.

Wiskott Aldrich syndrome

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.

Witkop syndrome

A syndrome that is characterised by the occurrence of nail dysplasia and tooth abnormalities due to a mutation in the MSX1 gene.

Wittwer syndrome

A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech.

Wolcott-Rallison syndrome

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-Hirschorn syndrome

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.

Wolff-Parkinson-White syndrome

Wolff-Parkinson-White syndrome (WPW) is a syndrome of pre-excitation of the ventricles of the heart due to an accessory pathway known as the bundle of Kent. This accessory pathway is an abnormal electrical communication from the atria to the ventricles. The incidence of WPW syndrome is between 0.9 and 3% of the general population. While the vast majority of individuals with a bundle of Kent remain asymptomatic throughout their entire lives, there is a risk of sudden death associated with the syndrome. Sudden death due to WPW syndrome is rare (incidence of less than 0.6%), and is due to the effect of the accessory pathway on tachyarrhythmias in these individuals.

Wolffian tumor

: A tumour which arises from the embryonic duct of the mesonephros.

Wolfram syndrome

Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), is a rare genetic disorder, causing diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders. It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D. The disease affects the brain (especially the brain stem) and central nervous system. 

There are two types of Wolfram syndrome with many overlapping features. The two types are differentiated by their genetic cause. Mutations in the WFS1 gene cause more than 90 percent of Wolfram syndrome type 1 cases whilst mutations in the CISD2 gene are responsible for the type 2 Wolfram syndrome.

It is inherited in an autosomal recessive pattern meaning both copies of the gene in each cell have mutations.

Wolfram syndrome is often fatal by mid-adulthood due to complications from the many features of the condition, such as health problems related to diabetes mellitus or neurological problems.

Wolman disease

Also known as early onset Lysosomal Acid Lipase (LAL) Deficiency, Wolman disease is an inherited metabolic disease that results in the buildup of fats in the tissues and organs leading to liver problems and growth failure in babies that is usually fatal by one year of age.

Woodhouse Sakati syndrome

Woodhouse-Sakati syndrome is a rare autosomal recessive genetic disorder which causes malformations and deficiencies affecting the endocrine system A condition which consists of numerous symptoms such as diabetes, hypogonadism, deafness and mental retardation.

Woods Leversha Rogers syndrome

A condition which is characterised by severe intrauterine growth retardation with an increase in the sensitivity to mitomycin C sensitivity.

Woolly hair- congenital

A rare condition characterized by tightly curled hair that occurs from birth in non-black people.

Worster Drought syndrome

WDS is named after Dr. Worster-Drought who first described it in 1956.It is a form of cerebral palsy in which the main effect on movement, is on the control of muscles which normally move the lips, jaw, tongue, palate, back of the throat (pharynx) and upper gullet (oesophagus or food pipe). Any number of these areas can be affected to variable degrees, and the children may have problems with eating, drinking, swallowing, dribbling and/or speech. Like many forms of cerebral palsy, the condition is complex and can be associated with difficulties in many areas (e.g. learning, behaviour, epilepsy). This means that the children can appear very different from each other, and often their main difficulties can be in the associated areas, rather than predominantly focused on the oral problems. Thus children with WDS can come to the attention of a variety of different specialists, (speech therapist, teacher, educational psychologist, G.P., paediatrician… ). As the condition is not well known, it can take some time before the whole picture is recognised and WDS diagnosed, enabling the child to receive the multifaceted support they need.

Worth syndrome

A rare genetic disorder characterized by benign bony areas on the palate and thickening of various long bones.

Wright Dyck syndrome

A condition characterised by a sensory neuropathy associated with deafness and dementia.

Wrinkly skin syndrome

A very rare genetic disorder characterized by wrinkly skin that occurs primarily on the palms and soles but can occur on other parts of the body. The condition is also associated with various other abnormalities.