Potter phenotype describes a typical appearance that, in the newborn, is determined by the absence of amniotic fluid (oligohydramnios). In the absence of amniotic fluid, the infant is not cushioned from the walls of the uterus. The pressure of the uterine wall causes a typical facial appearance (Potter’s facies) that includes widely separated eyes with epicanthal folds, broad nasal bridge, low set ears and receding chin.

In addition, because of limited space in the uterus, the limbs may be abnormal or held in abnormal positions or contractures. Oligohydramnios also stops development of the lungs (hypoplastic lungs), so that at birth the lungs do not function properly.

In Potter syndrome the primary defect is kidney failure that occurs before the baby is born, either from failure of the kidneys to develop (bilateral renal agenesis) or from other diseases which cause the kidneys to fail. The kidneys normally produce the amniotic fluid (as urine) and it is the absence of amniotic fluid that causes the typical appearance of Potter syndrome.

• Potter facies (described above)
• Absence of urine output
• Difficulty breathing

• Stiff lungs during resuscitation effort, requiring high pressure for ventilation
• Absence of amniotic fluid
• Urogenital abnormalities

• Fetal ultrasound (of mother before birth) -- may show lack of amniotic fluid, absence of fetal kidneys, or severely abnormal kidneys
• X-ray of the abdomen (of newborn)
• X-ray of the lungs (of newborn)
• Blood gases