Abstract

Background: WAGR syndrome is a rare congenital anomaly syndrome characterized by Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability, caused by the deletion of a segment on chromosome 11, specifically at 11p13.
Objective: The objective of the study is to study the rare presentation of wagr syndrome, implications of consanguinity on genetic disorders.
Methodology: This is the case study of 12 years old year old female patient along with petechial rashes on her foot soles and face, along with oral ulcers, and vaginal infection.Renal profile and sonogram of both kidney was performed. The bilateral kidney abnormalities, with longitudinal measurements revealing decreased kidney size and altered parenchymal echogenicity with differencial diagnosis of kidney failure and confirmed diagnosis of WAGR syndrome. For further testing FISH (fluorescent in situ hybridization) was carried out for the confirmation of detection of chromosome 11. The established diagnosis was WAGR syndrome. (Wilms tumor: a tumor of kidneys, Aniridia: absence of colored part of the iris, Genitourinary anomalies & Mental retardation).which is such a rare syndrome that it necessitates close monitoring, and early intervention, along with education on family planning and possible risks associated with consanguineous marriages.
Results: This case report reviews the psychosocial and clinical features of a patient diagnosed with WAGR syndrome, throwing into relief the impact of consanguinity on the prevalence of hereditary conditions
Conclusion: As our country have developed cousion marriage system, awarness section and education is the basic workable element to reduce the incidence like WAGR. Pharmacists played a critical role in optimizing medication regimens, mitigating side effects, and counseling families. On a more general scale, public health initiatives, such as genetic education, screening programs, and premarital counseling, played a crucial role in reducing the burden of hereditary disorders in communities with high cognation rates