Rare Pulmonology News

Disease Profile

Potter sequence

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Potter syndrome; Oligohydramnios sequence

Categories

Congenital and Genetic Diseases

Summary

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.[1]

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.[1] 

Cause

The features of Potter sequence are caused by a series of events that occur when there is a problem with the amount of amniotic fluid surrounding the baby. After approximately 16 weeks of pregnancy, the amount of amniotic fluid (fluid that surrounds the baby) depends on how much urine the developing baby is producing. In normal development, the baby continuously swallows amniotic fluid, which is then processed by the kidneys and excreted as urine.

Babies with Potter sequence have a problem with the kidneys or urinary tract that is preventing them from producing the correct amount of urine. This causes there to be a low amount of amniotic fluid (oligohydramnios). When there is not enough amniotic fluid, the baby’s lungs also become underdeveloped (pulmonary hypoplasia). The low amount of amniotic fluid also causes the typical facial features seen in babies with Potter sequence (Potter facies) because there is not enough fluid to provide protection from the walls of the uterus.[1][2]

The exact cause of the low levels of amniotic fluid in babies with Potter sequence may vary. Possible causes include failure of the kidneys to develop (bilateral renal agenesis), polycystic kidney diseases, and prune belly syndrome. Other causes may include urinary tract obstructions, exposures to harmful substances during pregnancy, or rupture of the membranes that surround the baby, causing amniotic fluid to leak. In some cases, the exact cause of Potter sequence may not be understood.[1]

Diagnosis

Potter sequence can be diagnosed when a doctor sees signs of the sequence, either on ultrasound or after a baby is born. Signs that might be identified on ultrasound include kidney abnormalities, low level of amniotic fluid (oligohydramnios), underdevelopment of the lungs (pulmonary hypoplasia), and facial features typical of babies with Potter sequence (Potter facies). Signs that might be identified after the baby is born may include low amounts of urine production or difficulty breathing (respiratory distress).[1]

If Potter sequence is suspected, tests may be completed to attempt to determine the underlying cause of the sequence or to find out more information about the severity. These tests may include genetic testing, measuring urine output, imaging studies, and blood tests.[1] 

Treatment

Treatment options associated with Potter sequence depend on the underlying cause of the disease. These options may include a kidney transplant, medications to help the lungs develop properly, and surgical treatment of an obstruction blocking the urinary tract. In some cases, surgical treatments may be available for babies during pregnancy.[4]

Babies with Potter sequence may require help in order to breathe when they are born. This may include resuscitation when the baby is born and ventilation to help maintain normal breathing.[2] If there are problems with the baby’s kidneys, dialysis (removing toxins from the blood) may be recommended until other treatment becomes available. Some babies with Potter sequence may also require feeding tubes to make sure they are getting enough nutrition.[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Potter sequence. Click on the link to view a sample search on this topic.

        References

        1. Gupta S and Araya CE. Potter syndrome. Medscape Reference. January 21, 2015; https://emedicine.medscape.com/article/983477-overview.
        2. Kaneshiro NK. Potter syndrome. MedlinePlus. July 10, 2015; https://medlineplus.gov/ency/article/001268.htm.
        3. Sanna-Cherchi S, Caridi G, Weng PL, Scolari F, Perfumo F, Gharavi AG, and Ghiggeri GM. Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatric Nephrology. October 2007; 22(10):1675-1684. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1994209/.
        4. Haeri S. Fetal Lower Urinary Tract Obstruction (LUTO): a practical review for providers. Maternal Health, Neonatology, and Perinatology. 2015; 1:26. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823687/.

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