The facial appearance characteristic of bilateral renal agenesis and other severe renal malformations, consisting of ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.
The impairment in renal function leads to oligohydramnios leading to pulmonary hypoplasia, club foot and Potter's facies. Repeat sonographic measurement of the length of the kidneys appears to be a useful parameter to diagnose ARPKD.8