History
The disease was first noted by German pathologist Karl Theodor Fahr in 1930. A less common name for the condition is Chavany-Brunhes syndrome and Fritsches syndrome, the former named after Jacques Brunhes, Jean Alfred Émile Chavany, while the later named after R. Fritsche.Fewer than 20 families had been reported in the literature up to 1997. In literature
Fahrs syndrome features in Norwegian Jo Nesbøs crime fiction novel "The Snowman" (the seventh novel in the Harry Hole detective series). See also
Primrose syndrome

References
External links

Fahr Syndrome Images (MedPix)
National Organization for Rare Disorders (NORD)
National Institute on Aging (NIA)
National Institute of Mental Health (NIMH)
Chromosomal analysis is necessary for definitive diagnosis. Other common eye defects include cataracts and ptosis. About 50% of people develop Wilms tumour. Pathophysiology
WAGR syndrome is caused by a mutation on chromosome 11 in the 11p13 region. Specifically, several genes in this area are deleted, including the PAX6 ocular development gene and the Wilms tumour gene (WT1). Abnormalities in WT1 may also cause genitourinary anomalies. Mutations in the PAX6 gene have recently been shown to not only cause ocular abnormalities, but also problems in the brain and pancreas.The gene for brain-derived neurotrophic factor (BDNF), located on 11p14.1, has been proposed as a candidate gene for the obesity and excessive eating in a subset of WAGR patients. This strengthens the case for a role for BDNF in energy balance. Diagnosis
Diagnosis for WAGR syndrome can be made by confirming microdeletion of 11p13 utilizing FISH (fluorescent in situ hybridization), the primary method of choice for diagnosis. FISH which will demonstrate a lack of a fluorescent signal coordinating to the specific location of the gene. Treatment
Children with WAGR syndrome receive regular (3-4 yearly) kidney surveillance for Wilms tumour until at least the age of 6–8 years and thereafter remain under some follow-up because of the risk of late onset nephropathy (40% of patients with WAGR Syndrome over the age of 12 years). Females with WAGR syndrome may have streak ovaries, which can increase the risk for gonadoblastoma. Malformations of the vagina and/or uterus may also be present. See also
Denys–Drash syndrome

References
External links

DECIPHER database entry for WAGR syndrome