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Genetic and Rare Diseases Information Center (GARD)

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Potter syndrome type 1

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What are the signs and symptoms of Potter syndrome?

The features of Potter syndrome may be evident during the prenatal period and may include a history of oligohydramnios or ultrasonography which reveals cysts within the kidneys. During the neonatal period, there may be an absence or minimal amounts of urine output or respiratory distress. Physical findings may include 'Potter facies', which consists of a flattened nose, recessed chin, epicanthal folds, and low-set abnormal ears; pulmonary hypoplasia (underdevelopment of the lungs); skeletal malformations such as hemivertebrae (wedge-shaped spinal bones), sacral agenesis (absence of all or part of the sacrum, the lowest section of the spine) and limb anomalies; ophthalmologic malformations; and cardiovascular malformations.[1]  

More detailed information about these findings can be accessed through the eMedicine web site.

Last updated: 5/31/2011

  1. Sushil Gupta and Carlos E Araya. Potter syndrome. eMedicine. June 30, 2010; Accessed 5/31/2011.