Perlman

Perlman Syndrome is a rare genetic disorder characterized by overgrowth at birth, renal dysplasia, polydactyly, and Wilms' tumor, a type of kidney cancer. The syndrome is named after American geneticist Judith G. Hall and her colleague, David L. Rimoin, who first described the condition in 1973.

Signs and Symptoms

The most common symptoms of Perlman syndrome include macrosomia (large body size), neonatal hypoglycemia (low blood sugar), cryptorchidism (undescended testicles in males), and facial dysmorphism (unusual facial features). Other symptoms may include mental retardation, hypotonia (low muscle tone), and nephroblastomatosis (a condition that increases the risk of developing Wilms' tumor).

Causes

Perlman syndrome is caused by mutations in the DIS3L2 gene. This gene provides instructions for making an enzyme that is involved in the process of RNA degradation. Mutations in the DIS3L2 gene disrupt the normal function of this enzyme, leading to the overgrowth and other symptoms associated with Perlman syndrome.

Diagnosis

Diagnosis of Perlman syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the DIS3L2 gene.

Treatment

Treatment for Perlman syndrome is symptomatic and supportive. Management may include surgery to remove Wilms' tumor or other tumors, treatment for hypoglycemia, and other interventions as needed based on the individual's symptoms.

Prognosis

The prognosis for individuals with Perlman syndrome varies. Some individuals have a mild form of the disorder and live into adulthood, while others have severe complications and do not survive past infancy.

See Also

• Genetic disorder
• Wilms' tumor
• DIS3L2

Perlman Resources
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