Diseases

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.

Wyburn Mason’s syndrome

A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.

X chromosome- monosomy Xp22 pter

X chromosome, monosomy Xp22 pter: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual.

X chromosome- monosomy Xq28

X chromosome, monosomy Xq28 (medical condition): A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual.

X chromosome- trisomy 26-28

X chromosome, trisomy 26-28: A condition characterised by the duplication of the long arm of chromosome X.

X chromosome- trisomy Xp3

X chromosome, trisomy Xp3: A condition characterised by the duplication of the long arm of chromosome X.

X chromosome- trisomy Xq

X chromosome, trisomy Xq: A condition characterised by the duplication of the long arm of chromosome X

X chromosome- trisomy Xq25

X chromosome, trisomy Xq25: A condition characterised by the duplication of the long arm of chromosome X.