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Potter syndrome


Other Names for this Disease

  • Oligohydramnios sequence
  • Potter sequence
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Overview

What is Potter syndrome?

What are the signs and symptoms of Potter syndrome?

What causes Potter syndrome?

What is Potter syndrome?

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; features of Eagle-Barrett (prune belly) syndrome; ophthalmologic (eye) malformations; and heart defects. There are various causes, including bilateral renal agenesis, cystic kidney diseases, autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, early rupture of membranes, and other renal abnormalities. The underlying cause of the condition is often undetermined but is genetic in some cases, and the inheritance pattern depends on the specific genetic cause. Treatment, when possible, depends on the severity and nature of the abnormalities present.[1]
Last updated: 5/24/2011

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

What causes Potter syndrome?

A sequence of events causes the features of Potter syndrome. After approximately 16 weeks gestation, the amount of amniotic fluid present mainly depends on fetal urine production. In normal fetal development, the fetus continuously swallows amniotic fluid, which then gets reabsorbed by the GI tract and then reintroduced into the amniotic sac by the kidneys. Oligohydramnios (too little of amniotic fluid) occurs if the volume of amniotic fluid is less than normal for that period of gestation. This may be due to decreased urine production caused by bilateral renal agenesis, obstruction of the urinary tract, or, occasionally, prolonged rupture of membranes. The resulting oligohydramnios is the cause of the abnormalities seen in Potter syndrome. The mechanism of lung hypoplasia (underdevelopment) in this condition is not clear, but it is believed that adequate space for fetal movement and the movement of amniotic fluid into the fetal lungs is required for the normal development of lungs.[1]

In one study that looked at 80 cases of Potter syndrome, the authors stated that the abnormal renal findings leading to oligohydramnios were bilateral renal agenesis in 21.25%; cystic dysplasia in 47.5%; obstructive uropathy in 25%; and others in 5.25%.[2]
Last updated: 1/14/2011

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. Curry CJ, Jensen K, Holland J, Miller L, Hall BD. The Potter sequence: a clinical analysis of 80 cases. American Journal of Medical Genetics. December 1984; 19(4):679-702. http://www.ncbi.nlm.nih.gov/pubmed/6393764. Accessed 1/14/2011.


Other Names for this Disease
  • Oligohydramnios sequence
  • Potter sequence
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.