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.
- Widely separated eyes with epicanthal folds, broad nasal bridge, low set ears, and receding chin
- Absence of urine output
- Difficulty breathing
Exams and Tests
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:
Resuscitation at delivery may be attempted pending the diagnosis. Treatment will be provided for any urinary outlet obstruction.
This is a very serious condition. Most of the time it is deadly. The short-term outcome depends on the severity of lung involvement. Long-term outcome depends on the severity of kidney involvement.
There is no known prevention.
Copelovitch L, Kaplan BS. Developmental abnormalities of the kidneys. In: Gleason CA, Devaskar SU, eds. Avery's diseases of the newborn. 9th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 83.
Elder JS. Congenital anomalies and dysgenesis of the kidneys. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 537.
Joyce E, Ellis D, Miyashita Y. Nephrology. In: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 14.