Perlman Syndrome

Perlman syndrome causes overgrowth in infancy and affects many different parts of the body. Babies with Perlman syndrome are bigger than most babies and have large heads, kidneys, and livers. In addition, they may have low muscle tone, distinctive facial features, and developmental delay. Over time, people with Perlman syndrome have an increased chance to develop Wilms tumor, a rare kidney cancer that primarily affects children. Perlman syndrome is caused by genetic changes (variants) in the DIS3L2 gene. It is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, a clinical exam, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.