Potter syndrome (patient information)

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Editors-in-Chief: C. Michael Gibson, M.S., M.D. Associate Editor-In-Chief: Ujjwal Rastogi, MBBS [mailto:urastogi@perfuse.org]

Overview
Potter syndrome and Potter phenotype refers to a group of findings associated with a lack of amniotic fluid and kidney failure in an unborn infant.

What are the symptoms of Potter syndrome?

 * Widely separated eyes with epicanthal folds, broad nasal bridge, low set ears, and receding chin
 * Absence of urine output
 * Difficulty breathing

What causes Potter syndrome?
In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is growing in the womb. The kidneys normally produce the amniotic fluid (as urine).

Potter phenotype refers to a typical facial appearance that occurs in a newborn when there is no amniotic fluid. The lack of amniotic fluid is called oligohydramnios. Without amniotic fluid, the infant is not cushioned from the walls of the uterus. The pressure of the uterine wall leads to an unusual facial appearance, including widely separated eyes.

Potter phenotype may also lead to abnormal limbs, or limbs that are held in abnormal positions or contractures.

Oligohydramnios also stops development of the lungs, so the lungs do not work properly at birth.

Who is at highest risk?
Potter syndrome has an occurrence rate of approximately 1 in 4000 births and predominately a male condition.

Diagnosis
A pregnancy ultrasound may show lack of amniotic fluid, absence of fetal kidneys, or severely abnormal kidneys in the unborn baby.

The following tests may be used to help diagnose the condition in a newborn:
 * X-ray of the abdomen
 * X-ray of the lungs

Treatment options
Resuscitation at delivery may be attempted pending the diagnosis. Treatment will be provided for any urinary outlet obstruction.

Where to find medical care for Potter syndrome?
Directions to Hospitals Treating Potter syndrome

What to expect (Outlook/Prognosis)?
This is a very serious condition, usually deadly. The short term outcome depends on the severity of lung involvement. Long term outcome depends on the severity of kidney involvement.

Possible complications
This condition is nearly fatal.

Prevention
There is no known prevention but a genome scan of the mother, father, affected infant and any unaffected siblings of the affected fetus can determine genetically inherited mutationss.