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Potter syndrome

Potter phenotype

 

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.

Causes

 

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.

 

Symptoms

 

Symptoms include:

  • 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:

  • X-ray of the abdomen
  • X-ray of the lungs

 

Treatment

 

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

 

Outlook (Prognosis)

 

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.

 

Prevention

 

There is no known prevention.

 

 

References

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 III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 537.

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  • Amniotic fluid

    Amniotic fluid

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  • Broad nasal bridge

    Broad nasal bridge

    illustration

    • Amniotic fluid

      Amniotic fluid

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    • Broad nasal bridge

      Broad nasal bridge

      illustration

    A Closer Look

     

      Talking to your MD

       

        Self Care

         

          Tests for Potter syndrome

           
             

            Review Date: 7/10/2015

            Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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