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WAGR Syndrome

WAGR Syndrome Causes

WAGR Syndrome is said to be caused by the mutation on the 11th chromosome in the 11p13 region, includign the PAX6 ocular development gene and the Wilms tumor gene. Mutations in the PAX6 gene have recently been shown to not only cause abnormalities but also problems in the brain and pancreas (Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, Umayahara Y, Matsuhisa M, Gorogawa S, Kuwayama Y, Tano Y, Yamasaki Y, Hori M (2002). "PAX6 mutation as a genetic factor common to aniridia and glucose intolerance". Diabetes 51 (1): 224-30).

WAGR Syndrome Definition

WAGR syndrome otherwise known as the WAGR complex, Wilms tumor-aniridia syndrome, aniridia-Wilms tumor syndrome, is a genetic disorder which affect children and made them to developed Wilms tumor, Aniridi, Genitourinary disorders and mental retardation. (Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M (2005). "WAGR syndrome: a clinical review of 54 cases". Pediatrics 116 (4): 984-8).

WAGR Syndrome Diagnosis

Diagnosis includes physical examination as in the case of genital anomalies, infants affected by the syndrome especially the aniridia may be diagnose through physical examination Chromosomal analysis however, is strongly advice to confirm the syndrome.

WAGR Syndrome Symptoms and Signs

Symptoms includes the presence of the tumor of the kidney or the Wilms tumor, absence of the colored part of the eye or the Aniridia, genitourinary anomalies like tumors that appears in the gonads and mental disorders. It may also includes cataracts and ptosis.

WAGR Syndrome Treatment

Treatment includes surgical removal of the tumor and the medication as prescribed by ophthalmologists in case of symptoms affecting the eye.

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