What is Perlman syndrome?

Perlman syndrome is a severe hereditary disease associated with macrosomia, a high mortality rate during the early stage in life, and kidney tumors. Characteristic features include polyhydramnios (excessive amniotic fluid), characteristic facial features, kidney malformations, nephroblastomatosis (a precursor to a Wilms tumor), and various congenital anomalies. More than 50% of those affected die of complications during the neonatal period, due to kidney failure and lung problems.

How is Perlman syndrome diagnosed?

The diagnosis is made clinically by experts who specialize in syndromes and is confirmed by detection of a mutation in the DIS3L2 gene.

What is the risk of cancer?

Many children who survive the newborn period develop a Wilms tumor, often on both sides. The risk of cancer is extremely high.

What causes Perlman syndrome?

Perlman syndrome is caused by a mutation – or genetic change – in both copies of the DIS3L2 gene. This gene controls significant biological processes that are also important during mental and physical development.

Is there a treatment?

Medical care for children requires an expert, multi-professional team to work together closely with the affected family.

Surveillance Recommendations for the Early Detection of Cancer

Surveillance Recommendations

It is a good idea to have the kidneys examined using ultrasound every three months until the age of 7.

Self-Care and Support

What should I pay special attention to?

Any new symptom that occurs should be evaluated by the treatment team.

Support Groups and Additional Information

Unfortunately, we are as yet unaware of any existing support groups for patients with Perlman syndrome. We will add new information as it becomes available.