What is the definition of 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.

What are the alternative names for Perlman Syndrome?

  • Nephroblastomatosis fetal ascites macrosomia and wilms tumor
  • Renal hamartomas, nephroblastomatosis, and fetal gigantism

What are the causes for Perlman Syndrome?

Perlman syndrome occurs when the DIS3L2 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all. 

Is Perlman Syndrome an inherited disorder?

Perlman syndrome is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must have a pathogenic variant to have the condition.
People with autosomal recessive conditions inherit one variant from each of their parents. The parents, who each have one gene variant, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

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