"Perlman Syndrome" – What Is It?

Perlman syndrome is a severe hereditary disorder that is associated with tall stature, high mortality in early life, and kidney tumors. Characteristic features are polyhydramnios (a lot of amniotic fluid), distinctive facial features, kidney malformations, nephroblastomatosis (a precursor of Wilms’ tumor, a kidney tumor), and various congenital anomalies. More than 50% of those affected die in the neonatal period from complications such as kidney failure and lung problems.

Overview of the Chapters on This Page:

  • Perlman Syndrome – What Is It? (This Section)
  • How Is "Perlman Syndrome" Diagnosed?
  • What Is the Risk of Cancer?
  • What Is Known About the Development of "Perlman Syndrome"
  • Is There Any Treatment Available?
  • Medical Measures for Early Detection
  • Perlman Syndrome – What You Can Do Yourself
  • Links and Further Information (e.g., From Support Groups)
  • Perlman Syndrome – What Is It? (This Section)
  • How Is "Perlman Syndrome" Diagnosed?
  • What Is the Risk of Cancer?
  • What Is Known About the Development of "Perlman Syndrome"?
  • Is There Any Form of Treatment Available?
  • Medical Measures for Early Detection
  • Perlman Syndrome – What You Can Do Yourself
  • Links (e.g., From Support Groups) and Further Information

How Is "Perlman Syndrome" Diagnosed?

The diagnosis is made clinically by an expert experienced in syndromes. The detection of a mutation in the DIS3L2 gene confirms the diagnosis.

What Is the Risk of Cancer?

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

What Is Known About the Development of "Perlman Syndrome" ?

Das Perlman-Syndrom beruht auf einer Mutation, also einer genetischen Veränderung beider Kopien des DIS3L2-Gens. Dieses Gen steuert wichtige biologische Prozesse, die auch während der geistigen und körperlichen Entwicklung wichtig sind.

Is There Any Form of Treatment Available?

Caring for children requires an expert multi-professional team that works closely with the family concerned.

Diagnosis of " Perlman Syndrome" What's Next?

If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.

Diagnosis of " Perlman Syndrome" What's Next?

If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.

Medical Measures for Early Detection

It makes sense to have an ultrasound examination of the kidneys every three months until the age of seven.

Perlman Syndrome- What You Can Do Yourself

You Should Pay Attention to This

Your treatment team should clarify any new symptoms.

Further Information

Unfortunately, we are not yet aware of any support groups for patients with Perlman syndrome. As soon as we have new information, we will add it here. However, patients can also register for the CPS registry at any time or have this done by the doctors looking after them.

Any further questions?

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