polycystic kidney disease

Potter Disease, Type I

Clinical Characteristics
Ocular Features: 

As part of the facial morphology said to be characteristic of Potter disease, there is usually hypertelorism, telecanthus and epicanthal folds.  Cataracts and angiomas of the optic disc area have also been described.

Systemic Features: 

Polycystic kidney disease and hepatic system anomalies are major features of Potter disease.   Pulmonary hypoplasia with neonatal respiratory distress, however, is often the most immediate cause of death in most infants.  Antenatal oligohydramnios and low birth weight are commonly present.  As many as 33% of fetuses die in utero, often the result of bilateral renal agenesis.  Infants that survive can have chronic lung disease and renal dysfunction.  Congenital heart malformations are common, including septal defects, tetralogy of Fallot and patent ductus arteriosis.  Vertebrae may have a ‘butterfly’ shape but other skeletal findings include hemivertebrae and sacral agenesis.  The neck has been described as short and the skull is brachycephalic.

The facial appearance, known as Potter facies, is said to be characteristic and may be helpful in distinguishing this type of polycystic kidney disease.  In addition to the ocular findings, the nares are often anteverted, and the external ears are large and often posteriorly rotated.


The uniqueness of this syndrome remains to be established.  There are several polycystic kidney disorders which have a monogenic basis. These often have overlapping renal features with the condition described here but lack the facial features said to be characteristic of Potter type I disease.  Autosomal recessive inheritance has been suggested on the basis of several reported families with affected sibs from consanguineous parents but so far no gene locus or mutation has been identified.

Autosomal recessive
Treatment Options: 

There is no treatment for the condition but symptoms of respiratory distress and renal failure may need to be addressed acutely.  Long-term therapy for pulmonary disease and renal dysfunction can be considered for older individuals.  Many infants die in the neonatal period.

Article Title: 

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p

Hallermann C, M?ocher G, Kohlschmidt N, Wellek B, Schumacher R, Bahlmann F, Shahidi-Asl P, Theile U, Rudnik-Schoneborn S, M?ontefering H, Zerres K. Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p. Am J Med Genet. 2000 Jan 17;90(2):115-9. Review.

PubMed ID: 
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