Type of disease: Rare conditions
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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.