Perlman Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Perlman Syndrome?
A primary care doctor, such as a pediatrician, usually helps coordinate care and handles routine checkups. Because Perlman syndrome affects many parts of the body, babies and children also need specialists, including a geneticist, a nephrologist who treats kidney disease, and an oncologist who treats cancer.
What is Perlman syndrome?
Perlman syndrome is a very rare condition that babies are born with. It affects how the body grows before and after birth. Babies with this condition often grow much larger than expected. They may also have low muscle tone and problems with the kidneys, the organs that filter waste from the blood.
Symptoms
The signs usually show up before birth or soon after. Babies may be larger than normal at birth, called macrosomia. They may have a puffy face, a small or unusual jaw, and low muscle tone.
Other signs can include an enlarged liver or kidneys, and a hernia. Many babies with Perlman syndrome also have a higher chance of a kidney tumor called Wilms tumor, a cancer that mostly affects young children.
Causes and who gets it
Perlman syndrome is caused by changes in a gene called DIS3L2. It is passed down in a recessive way, so a child must get one changed copy from each parent to have the condition.
The condition is extremely rare, with only a small number of cases reported worldwide. It affects boys and girls.
How doctors diagnose it
Doctors may suspect Perlman syndrome before birth if an ultrasound shows a larger than expected baby or enlarged kidneys. After birth, doctors look at the baby's signs, and genetic testing can confirm the diagnosis by finding changes in the DIS3L2 gene.
Treatment
There is no cure, so treatment focuses on each health problem the child has. Breathing support and newborn intensive care may be needed at birth. Kidney problems are treated by kidney specialists, and regular ultrasound exams watch for Wilms tumor so it can be treated early.
When to see a doctor
For a child known to have the condition, any new lump in the belly, blood in the urine, or signs of illness should be reported to the care team quickly, since these can be signs of a kidney tumor.
How a direct primary care or concierge doctor fits in
A direct primary care or concierge doctor, who charges a flat monthly fee instead of using insurance for visits, can spend extra time coordinating this team and will refer the child to the right specialists for kidney treatment, tumor screening, and genetic testing.
Common questions
Is Perlman syndrome inherited from parents?
Yes, but in most cases the parents are healthy carriers. Each parent has one changed copy of the DIS3L2 gene and one normal copy. When both parents are carriers, each pregnancy has a one in four chance of being affected.
Can Perlman syndrome be found before birth?
Sometimes. Ultrasound during pregnancy can show signs such as a larger baby or enlarged kidneys. Genetic testing can confirm the diagnosis before or after birth if doctors suspect it.
Do children with Perlman syndrome need cancer screening?
Yes. Children with the condition have a higher risk of Wilms tumor, a kidney cancer of early childhood. Doctors usually recommend regular kidney ultrasound exams to watch for tumors so they can be found early.
Is there a cure?
No cure exists right now. Care focuses on treating each health problem as it comes up and watching closely for complications. Outcomes differ from child to child.
Sources
- NIH Genetic and Rare Diseases Information Center - Perlman syndrome
- National Organization for Rare Disorders - Perlman syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
