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Genetic and Rare Diseases Information Center (GARD)

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Potter syndrome type 1


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Overview


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

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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Potter syndrome type 1. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.