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Potter Syndrome Clinical Presentation

  • Author: Sushil Gupta, MD; Chief Editor: Craig B Langman, MD  more...
Updated: Jan 21, 2015


Features of the history in Potter syndrome may include the following:

  • Antepartum period (Findings of either of the historical factors below requires close follow-up of the neonate during the prenatal and neonatal periods).
    • History of oligohydramnios
    • History of prenatal ultrasonography that reveals renal agenesis or evidence of hydronephrosis (obstructive uropathy) or other renal disorders
  • Neonatal period
    • Absence or paucity of urine output during the neonate's initial 48 hours life
    • Respiratory distress
    • Lack of proper force in the urinary stream in neonates with posterior urethral valves


Findings at physical examination may include the following:

  • Potter facies: Affected infants have a flattened nose, recessed chin, prominent epicanthal folds, and low-set abnormal ears.
  • Pulmonary hypoplasia: The degree of pulmonary hypoplasia depends on the degree and duration of oligohydramnios, as well as the stage of lung development at which oligohydramnios occurs.
  • Features of Eagle-Barrett (prune belly) syndrome: This is an occasional cause of the Potter syndrome. Neonates have a deficient abdominal wall, undescended testes, dilated ureters, and a renal pelvis[40, 41] .
  • Skeletal malformations: Hemivertebrae, sacral agenesis, and limb anomalies may be present[2] .
  • Ophthalmologic malformations: Cataract, angiomatous malformation in the optic disc area, prolapse of the lens, and expulsive hemorrhage may be present[42] .
  • Cardiovascular malformations: Ventricular septal defect, endocardial cushion defect, tetralogy of Fallot, and patent ductus arteriosus may be present[38] .
  • A study of thirty cases of arthrogryposis associated with longstanding oligohydramnios were identified among 2,500 cases of arthrogryposis and were reviewed for clinical features and natural history. Potter facies and remarkable skin changes were present in all cases.[43]


Causes of Potter syndrome may include the following:

  • Bilateral renal agenesis
  • Cystic kidney diseases
    • Autosomal recessive polycystic kidney disease
    • Autosomal dominant polycystic kidney disease
    • Multicystic renal dysplasia
  • Obstructive uropathy
  • Early rupture of membranes

A retrospective analysis of children with Potter syndrome found that 21% had bilateral renal agenesis, 47% had cystic dysplasia, 25% had obstructive uropathy, and 5% had other defects. Posterior urethral valves were the most common cause of bladder outlet obstruction (60%).[44]

Contributor Information and Disclosures

Sushil Gupta, MD Assistant Professor of Pediatric Nephrology, University of Louisville School of Medicine

Sushil Gupta, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, American Society of Pediatric Nephrology, Indian Medical Association

Disclosure: Nothing to disclose.


Carlos E Araya, MD, FAAP Assistant Professor of Pediatrics, University of Central Florida College of Medicine; Faculty, Florida Hospital; Faculty, Nemours Children's Hospital

Carlos E Araya, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Nephrology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Frederick J Kaskel, MD, PhD Director of the Division and Training Program in Pediatric Nephrology, Vice Chair, Department of Pediatrics, Montefiore Medical Center and Albert Einstein School of Medicine

Frederick J Kaskel, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, Eastern Society for Pediatric Research, Renal Physicians Association, American Academy of Pediatrics, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation, Federation of American Societies for Experimental Biology, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD The Isaac A Abt, MD, Professor of Kidney Diseases, Northwestern University, The Feinberg School of Medicine; Division Head of Kidney Diseases, The Ann and Robert H Lurie Children's Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, International Society of Nephrology

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Raptor Pharmaceuticals; Eli Lilly and Company; Dicerna<br/>Received grant/research funds from NIH for none; Received grant/research funds from Raptor Pharmaceuticals, Inc for none; Received grant/research funds from Alexion Pharmaceuticals, Inc. for none; Received consulting fee from DiCerna Pharmaceutical Inc. for none.

Additional Contributors

Laurence Finberg, MD Clinical Professor, Department of Pediatrics, University of California, San Francisco, School of Medicine and Stanford University School of Medicine

Laurence Finberg, MD is a member of the following medical societies: American Medical Association

Disclosure: Nothing to disclose.

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Sonogram obtained before second-trimester amnioinfusion. This fetus has bilaterally absent kidneys consistent with a diagnosis of Potter syndrome. The cystic structures in the renal fossae are most likely the adrenal glands.
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