Diseases

Van Bogaert-Hozay syndrome

A rare disorder characterized by destruction of ends of finger bones, mental retardation , skin wasting and eye and facial abnormalities.

Van Buchem disease type 2 (VBCH2)

Van Buchem disease type 2 (VBCH2) phenotype can be caused by mutation in the LRP5 gene. Van Buchem disease, type 2 is an autosomal dominant, high bone density disorder. The autosomal dominant inheritance of VB type 2 is clearly in contrast with the diagnosis of Van Buchem disease.

Van Den Bosch syndrome

A syndrome which is characterised by mental deficiency, choroideremia, acrokeratosis, verruciformis, anhidrosis, skeletal deformity.

Van der Woude syndrome, VWS

Van der Woude syndrome is a condition that affects the development of the face. It is characterised by multiple congenital abnormalities.

Variant Creutzfeldt-Jakob disease

The bovine spongiform encephalopathy affects cattle but the variant form can infect humans. Human infection can occur by consuming infected cattle products, especially the brain and other central nervous system tissues.

Variegate porphyria

A rare metabolic disorder characterized by a deficiency of a certain enzyme which results in a build-up in the body of porphyrins or their precursors. This form of hepatic porphyria causes the sufferer to have acute attacks as well as skin sensitivity.

Vasculitis- autoimmune

This is a broad and heterogeneous group of diseases characterized by inflammation and damage to the blood vessels, thought to be brought on by an autoimmune response. Any type, size, and location of blood vessel may be involved. Vasculitis may occur alone or in combination with other diseases, and may be confined to one organ or involve several organ systems.

Vasculitis- cutaneous necrotizing

Inflammation and damage of the blood vessel walls that also affects the skin. The condition may occur on its own or as a result of an underlying condition.

Vasquez Hurst Sotos syndrome

A rare genetic disorder characterized by underdeveloped genitals, obesity, mental retardation and skeletal abnormalities.

VATER association

An association of congenital abnormalities that consists of vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia.

Vein of Galen malformation

A rare condition which is characterised by an aneurysm resulting from a intracranial vascular malformation.