Zollinger-Ellison Syndrome

Zollinger-Ellison Syndrome

Zollinger-Ellison Syndrome is a rare form of tumour found in the pancreas or the upper part of the small intestine. The tumours produce the hormone gastrin, resulting in excess production of hydrochloric acid in stomach, which leads to peptic ulcers.

Zellweger Syndrome

Zellweger Syndrome

Zellweger Syndrome is one of a group of four diseases referred as “Peroxisome Biogenesis Disorders (PBD), an inherited condition that damages the white matter of the person’s brain. It is caused by defects in any of the 13 PEX genes, required for normal formation and function of peroxisomes – a cell structure that breaks down toxic substances and synthesize lipids necessary for cell function.

Xeroderma Pigmentosum

Xeroderma Pigmentosum

Xeroderma Pigmentosum is a rare genetic defect in which the skin and tissue covering the eye are extremely sensitive to ultraviolet rays from sunlight. It is caused by the defect in Nucleotide Excision Repair (NER) which leads to deficient repair of DNA damaged by UV radiation. It is usually detected early  in infancy around 6 months after birth.

Wiskott-Aldrich Syndrome

Wiskott - Aldrich syndrome

Wiskott - Aldrich syndrome is a rare and inherited immune deficiency disorder and a reduced ability to form blood clot. It primary affects males because WAS is an X-linked recessive genetic condition. Patients are highly susceptible to bacterial and fungal infection and eczema. Children with WAS are usually diagnosed in 1-2years after birth.

Wilson's Disease

Wilson's disease

Wilson's disease is a genetic disorder that prevents the body from eliminating extra copper, which leads to excessive accumulation of copper in the liver and brain causing life threatening organ damage. The condition is caused by mutation in the Wilson disease protein (ATP7B) gene.

Wilms' Tumor

Wilms' Tumor

 Wilms' Tumor is a rare type of kidney cancer that usually affects children. The cause is still unclear but the doctor believes the tumor begins to grow as the fetus develops in the womb. The error in the DNA allows the kidney cell to grow and divide uncontrollably forming a tumor. Birth defect syndrome also increases the risk of developing Wilms Tumor.

Wegener Granulomatosis

Wegener Granulomatosis

Wegener Granulomatosis is a rare disease that causes inflammation of blood vessel and restricting blood flow to various organs. The exact cause is unknown, but it is an autoimmune disorder. It is uncommon in children, but most common in adults between 40-60yrs.

Waldmann's Disease

Waldmann's Disease

Waldmann's Disease also known as Primary Intestinal Lymphangiectasia is a rare digestive disorder where lymph vessels supplying the lining of small intestine are abnormally enlarged. The cause of this condition is still unknown. The sign of the disease includes loss of lymphatic fluid into the gastrointestinal tract, immunodeficiency and reduced levels of antibodies.

Waardenburg Syndrome

Waardenburg Syndrome

Waardenburg Syndrome is a rare genetic disorder that involves deafness, facial abnormalities and pale skin, hair and eye color. The condition is usually inherited as an autosominal dominant trait. There are four types of Waardenburg Syndrome classified as Type 1, Type 2, Type 3 and Type 4, the latter 2 are rarer.

Von Hippel-Lindau Disease

Von Hippel-Lindau Disease

Von Hippel-Lindau Disease (VHL) is a rare genetic disorder causing multiple tumors both malign and benign in the central nervous system, eye and viscera. VHL disease is inherited and cause by the mutation in VHL tumor suppressor gene. People with VHL have high risk of developing kidney and pancreatic cancer.

Vogt-Koyanagi-Harada Syndrome

Vogt-Koyanagi-Harada

This disease is a multisystem illness categorized by granulomatous pan uveitis with exudative retinal disinterests that is often related with cutaneous and neurologic displays.

Van der Woude Syndrome

van der Woude syndrome

It is an autosomal dominant disease categorized by a cleft palate or cleft lip, typical pits of the lower lips, or together. It is the most collective disease related with cleft palate or cleft lip.

Symptoms

The indications depend on which characteristics of the van der Woude syndrome (VWS) a child is born with. If they are instinctive without lip pits or mounds in their lower lip, kids with VWS look just like children with cleft lip and palate.

Diagnosis

Occasionally cleft lip and palate are analyzed before a baby is born because the clefts can be noticeable during a monotonous ultrasound.

Treatment

Along with a full or facial inspection, a full general physical inspection helps to regulate if other related anomalies of the genitourinary system, cardiovascular system, limbs, or other organ systems are present.

Uveitis

Uveitis

It is irritation of the uvea, the central layer of the eye. The uvea contains of the iris, choroid and culinary body. The choroid is sandwiched amid the retina and the white of the eye (sclera), and it offers blood movement to the deep layers of the retina.