Potter syndrome type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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. Potter syndrome type 1 is caused by autosomal recessive polycystic kidney disease (ARPKD), which is linked to a mutation in the PKHD1 gene.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,
Last updated: 5/31/2011
- Sushil Gupta and Carlos E Araya. Potter syndrome. eMedicine. June 30, 2010; http://emedicine.medscape.com/article/983477-overview. Accessed 5/31/2011.
- Potter's Syndrome FAQ's. Potter's Syndrome Website. http://www.potterssyndrome.org/pottersfaqs.html. Accessed 5/31/2011.
- 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 a 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.