Wagr syndrome

WAGR Syndrome

WAGR syndrome (pronounced: /wæɡər/), also known as Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome, is a rare genetic disorder characterized by a specific set of abnormalities that are present at birth.

Etymology

The term "WAGR" is an acronym that stands for the main features of this condition: Wilms tumor, Aniridia, Genitourinary anomalies, and Mental retardation.

Definition

WAGR syndrome is a rare genetic disorder that affects multiple body systems. It is characterized by the presence of several specific birth defects. The name of the syndrome is an acronym that stands for the main features of the disorder: Wilms tumor, Aniridia, Genitourinary anomalies, and Mental retardation.

Symptoms

The symptoms of WAGR syndrome can vary greatly from person to person. However, the four main features of the syndrome are:

• Wilms tumor: A type of kidney cancer that primarily affects children.
• Aniridia: A condition characterized by a partial or complete absence of the iris, the colored part of the eye.
• Genitourinary anomalies: Abnormalities in the structure or function of the genitals and urinary system.
• Mental retardation: Delayed development of mental and social skills.

Causes

WAGR syndrome is caused by deletions of genetic material on the short (p) arm of chromosome 11. The size of the deletion varies among affected individuals. This deletion includes the WT1 and PAX6 genes, which are critical for the normal development of the eyes, kidneys, and genitalia.

Diagnosis

Diagnosis of WAGR syndrome is based on the presence of the characteristic features of the syndrome. Genetic testing can confirm the diagnosis by identifying the characteristic deletion on chromosome 11.

Treatment

Treatment for WAGR syndrome is symptomatic and supportive. It may include surgery to remove a Wilms tumor, medications to manage symptoms of aniridia, and special education services for mental retardation.

See also

• Genetic disorder
• Chromosome deletion
• Wilms tumor
• Aniridia
• Genitourinary anomalies
• Mental retardation

External links

• Medical encyclopedia article on Wagr syndrome
• Wikipedia's article - Wagr syndrome

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