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Genetic and Rare Diseases Information Center (GARD)

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Potter syndrome type 1


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Overview



What is Potter syndrome type 1?

What are the signs and symptoms of Potter syndrome?


What is Potter syndrome type 1?

Potter syndrome refers to the typical physical appearance and associated pulmonary hypoplasia (limited lung development) of a newborn as a direct result of kidney failure, oligohydramnios (lack of amniotic fluid) and compression while in the uterus. Features may include 'Potter facies', which consists of a flattened nose, recessed chin, epicanthal folds, and low-set abnormal ears; pulmonary hypoplasia; skeletal malformations; ophthalmologic (eye) malformations; and heart defects.[1] Potter syndrome type 1 is caused by autosomal recessive polycystic kidney disease (ARPKD), which is linked to a mutation in the PKHD1 gene.[2]
Last updated: 5/31/2011

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

References
  1. Sushil Gupta and Carlos E Araya. Potter syndrome. eMedicine. June 30, 2010; http://emedicine.medscape.com/article/983477-overview. Accessed 5/31/2011.
  2. Potter's Syndrome FAQ's. Potter's Syndrome Website. http://www.potterssyndrome.org/pottersfaqs.html. Accessed 5/31/2011.