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Perlman syndrome is a rare condition that affects the kidneys. People with this condition are generally born with renal abnormalities and have an increased risk for Wilms tumor, a rare kidney cancer that primarily affects children. Other signs and symptoms include a large birth size, low-muscle tone, characteristic facial features and developmental delay. Although the exact cause of Perlman syndrome is currently unknown, it appears to follow an autosomal recessive pattern of inheritance. Treatment is supportive and based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
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