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Genetic and Rare Diseases Information Center (GARD)

Potter syndrome type 1

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What are the signs and symptoms of Potter syndrome type 1?

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

The Human Phenotype Ontology provides the following list of signs and symptoms for Potter syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Congenital hepatic fibrosis 90%
Depressed nasal ridge 90%
Hypoplasia of the ear cartilage 90%
Low-set, posteriorly rotated ears 90%
Macrotia 90%
Polycystic kidney dysplasia 90%
Renal insufficiency 90%
Respiratory insufficiency 90%
Abnormality of the pancreas 50%
Biliary tract abnormality 50%
Cystic liver disease 50%
Renal hypoplasia/aplasia 50%
Neonatal death 5%
Absence of renal corticomedullary differentiation -
Autosomal recessive inheritance -
Dehydration -
Enlarged kidneys -
Esophageal varix -
Hepatic cysts -
Hepatomegaly -
Oligohydramnios -
Pancreatic cysts -
Periportal fibrosis -
Portal hypertension -
Potter facies -
Pulmonary hypoplasia -
Renal cyst -
Splenomegaly -
Tubulointerstitial fibrosis -

Last updated: 7/1/2016

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

  1. Sushil Gupta and Carlos E Araya. Potter syndrome. eMedicine. June 30, 2010; Accessed 5/31/2011.

See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.