Potter Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Potter Syndrome?
A primary care doctor, such as a family doctor or pediatrician, is usually the first point of contact and helps coordinate care. Babies are treated by specialists, most often a nephrologist, a doctor who treats kidney problems. Lung and other specialists may also be involved.
What is Potter Syndrome?
Potter Syndrome is a rare condition in which a baby is born with underdeveloped lungs and certain physical features, such as a flattened face and folded ears. It happens because the baby did not have enough amniotic fluid, usually due to kidney problems before birth.
Potter Syndrome is not one single disease. It is a pattern of problems that develops when a baby's kidneys do not form properly or do not work during pregnancy. Because healthy kidneys make most of the amniotic fluid, kidney failure causes the fluid level to drop. Low fluid leaves the lungs small and underdeveloped, a problem called pulmonary hypoplasia.
Symptoms
Babies with Potter Syndrome often have a flattened nose, a recessed chin, folded ears, and wide-set eyes. Their arms and legs may look unusual because of the tight space in the womb. Breathing trouble from underdeveloped lungs is usually the most serious symptom.
Causes and who gets it
The most common cause is missing or severely underdeveloped kidneys before birth. It can also happen when the kidneys are blocked or when amniotic fluid is lost early in pregnancy. Some forms are genetic while others happen by chance.
How doctors diagnose it
Doctors often find signs during pregnancy on an ultrasound, such as low amniotic fluid and kidney problems. After birth, doctors examine the baby and use imaging tests to check the kidneys and lungs. Genetic testing may find an underlying cause.
Treatment
Treatment focuses on keeping the baby alive and comfortable. Babies with severe lung problems may need a breathing machine or oxygen. When the kidneys do not work, doctors may use dialysis or consider a kidney transplant as the child grows.
When to see a doctor
If a baby has trouble breathing, poor feeding, or little urine output, seek medical care right away. Families with a history of kidney problems should talk to a doctor before or during pregnancy. Survivors need ongoing follow-up with specialists.
How a direct primary care or concierge doctor fits in
For families wanting more time with their main doctor, a direct primary care or concierge doctor can be a helpful home base. In direct primary care, the patient pays a flat monthly fee instead of using insurance; concierge medicine is similar but usually costs more and often works alongside insurance. These doctors handle checkups and everyday needs, and refer families to kidney or lung specialists and coordinate care between visits.
Common questions
Can a baby survive Potter Syndrome?
Some babies do survive, especially those whose kidneys and lungs are less severely affected. Survival depends on how well the lungs and kidneys work; babies with no kidney function face the greatest challenges.
Can Potter Syndrome be found before birth?
Yes, often. A pregnancy ultrasound can show low amniotic fluid and kidney problems, and doctors may order more tests to find the cause.
Does Potter Syndrome run in families?
Some causes are genetic and can happen again in a future pregnancy. Others occur by chance. A genetics specialist can help a family understand the cause and the chance of it happening again.
Is there a cure?
There is no single cure. Treatment focuses on supporting breathing, replacing kidney function when possible, and managing other problems.
Sources
- NIH Genetic and Rare Diseases Information Center - Thomas syndrome
- MedlinePlus - Kidney Diseases
- MedlinePlus - Birth Defects
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.
