This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Potter sequence refers to a group of features that can result when there is too little amniotic fluid (oligohydramnios) surrounding a baby while in the uterus. This can cause distinct facial features (Potter facies), which may include a flattened nose, recessed chin, skin folds covering the corners of the eyes (epicanthal folds), and low-set abnormal ears. Having low amniotic fluid can also result in underdevelopment of the lungs (pulmonary hypoplasia). Other associated features may include eye malformations and heart defects.
There are various causes of Potter sequence including failure of the kidneys to develop (bilateral renal agenesis), polycystic kidney diseases, prune belly syndrome, rupture of membranes surrounding the baby, and other kidney abnormalities. The underlying cause of the sequence is often undetermined, but it may be genetic in some cases. The inheritance pattern depends on the specific genetic cause. Diagnosis is based on ultrasound findings or the presence of characteristic symptoms such as kidney malfunction and difficulty breathing. Treatment depends on the underlying cause of the sequence.
For more information, visit GARD.