Potter syndrome type 1
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; 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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.