Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://covid19.nih.gov (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. Potter sequence
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Cause
    • Inheritance
    • Diagnosis
    • Treatment
    • Prognosis
    • Organizations
    • Learn More
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Potter sequence


Title




Other Names:
Potter syndrome; Oligohydramnios sequence
Categories:
Congenital and Genetic Diseases

Summary Summary


Listen
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] 
Last updated: 11/22/2017

Cause Cause


Listen
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]
Last updated: 11/22/2017
Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance


Listen
Potter sequence can occur for a number of reasons. Some of these reasons may be genetic, while others may occur by chance. In some cases, the underlying cause of Potter sequence is not able to be determined.[1]

In some cases, the primary cause of Potter sequence is a genetic abnormality. Genetic abnormalities may include:[1][3]
  • Polycystic kidney disease
  • Hereditary renal agenesis
  • Chromosome abnormalities
  • Other genetic syndromes

If Potter sequence is caused by an underlying genetic change, it may have occurred for the first time in the affected baby, or it may have been inherited from one or both parents. The underlying cause of Potter sequence must be determined in order to tell parents the exact risk that it could happen again in a future pregnancy.
Last updated: 11/22/2017

Diagnosis Diagnosis


Listen
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] 
Last updated: 11/22/2017

Treatment Treatment


Listen
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]
Last updated: 11/22/2017

Prognosis Prognosis


Listen
The long-term outlook for babies affected by Potter sequence depends on the underlying cause of the sequence. Unfortunately, many babies who are diagnosed with Potter sequence do not survive because they have many health problems affecting multiple organ systems. However, if the baby’s lungs have had time to mature and if the kidney problems are treatable, some babies with Potter sequence may survive.[1]

It is important for parents who have babies with Potter sequence to remember that treatment may not help all babies survive. If the underlying cause of Potter sequence is determined to have a poor long-term outlook, some parents decide not to perform extreme life-saving measures. If Potter sequence is diagnosed prenatally, the doctors and parents should work together to make a delivery plan. Personalized information should be provided depending on each situation so that the best decision can be made for the family. 
Last updated: 11/25/2017

Organizations Organizations


Listen

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

  • National Kidney Foundation
    30 East 33rd Street
    New York, NY 10016
    Toll-free: 800-622-9010
    Telephone: 212-889-2210
    Fax: 212-689-9261
    E-mail: info@kidney.org
    Website: https://www.kidney.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


Listen

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.

GARD Answers GARD Answers


Listen

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Gupta S and Araya CE. Potter syndrome. Medscape Reference. January 21, 2015; http://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/.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen