What is Potter syndrome?
Potter syndrome is a rare condition that occurs when there is too little amniotic fluid during pregnancy. It is characterized by distinct facial features and skeletal abnormalities. The estimated incidence of this condition is one of every 4,000 to 10,000 births.
What are the symptoms of Potter syndrome?
The signs can vary between newborns, but everyone experiences severe complications. Unfortunately, it is often fatal during or right after birth. If it is not fatal, chronic kidney failure and chronic lung disease are common.
The distinct facial features that characterize this disease are:
- Widely spaced eyes
- Recessed chin
- Flattened nose bridge
- Low-set ears
- Crease beneath the lower lips
- Skin folds in the inner corners of the eyes
Other symptoms include absent or malformed kidneys, underdeveloped lungs, respiratory issues, skeletal abnormalities in the arms and legs, malformations of the spine, eye abnormalities, and congenital heart defects. Newborns with Potter syndrome are often born prematurely, meaning they will be very small.
What causes Potter syndrome?
Multiple things can cause Potter syndrome, but the most common is the absence, malformation, or damage of the kidneys. When the kidneys do not function properly, there is a low level of amniotic fluid, which then causes the characteristic symptoms of Potter syndrome.
Another cause is autosomal recessive polycystic kidney disease, prune belly syndrome, chromosomal disorders, and obstructive uropathy. Ruptures to the amniotic membrane can also result in this condition.
How is Potter syndrome diagnosed?
This condition can be detected before birth, which is done through an ultrasound. If it is not diagnosed during pregnancy, then doctors will notice the characteristic symptoms, perform a clinical evaluation, look at patient and family history, and perform specialized tests. These tests include X-rays, blood and urine tests, and echocardiograms.
What are the treatments for Potter syndrome?
There is no treatment for Potter syndrome. If the newborn survives past birth and has kidneys, doctors can provide respiratory assistance and dialysis.