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Genetic and Rare Diseases Information Center (GARD)

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Potter syndrome type 1

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Your Question

What are the presenting features of Potter syndrome type 1? How is this condition inherited? What are the associated anomalies? 

Our Answer

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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

How is Potter syndrome type 1 inherited?

Potter syndrome type 1 results from autosomal dominant polycystic kidney disease which is inherited in an autosomal recessive pattern.[2] People with this form of the condition have two altered copies of the PKHD1 gene in each cell. The parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
Last updated: 5/31/2011