Rare Pulmonology News

Disease Profile

Fowler’s syndrome

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

ageofonset-childhood.svg

ICD-10

-

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Voiding dysfunction and polycystic ovaries; Polycystic ovaries urethral sphincter dysfunction; Fowler Christmas Chapple syndrome

Categories

Female Reproductive Diseases; Kidney and Urinary Diseases

Summary

Fowler’s syndrome mainly affects young women and leads to the inability to empty the bladder (urinary retention). Many women have no other symptoms, although some women experience stomach pain. Fowler's syndrome is caused by spasms of the external urethral sphincter, a band of muscle that opens and closes at the exit of the bladder. The cause is unknown, but it has been known to occur after a surgical procedure, childbirth, opiate use, or other medical condition. Fowler's syndrome is difficult to diagnose, but many women with Fowler's syndrome have abnormal electrical activity on a specialized test called concentric needle electromyography. Fowler's syndrome is most often treated by using a device placed inside the body that helps stimulate the bladder.[1][2][3]

Symptoms

The following includes the most common signs and symptoms in people with Fowler's syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This does not include every symptom or feature that has been described in this condition

Symptoms of Fowler’s syndrome may include:[4][5]

  • Inability to pee (urinate)
  • Inability to feel that the bladder is full
  • Stomach pain

Fowler's syndrome usually occurs in women under the age of thirty. It may develop after a surgical procedure, childbirth, opiate use, or other sudden medical condition. Some women with Fowler's syndrome have polycystic ovaries. Because there are many causes for urinary retention (the inability to empty the bladder), Fowler's syndrome may be difficult to diagnose.[4][5]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormality of the urethra
Urethra issue
0000795
Dysuria
Painful or difficult urination
0100518
EMG abnormality
0003457
Polycystic ovaries
0000147
5%-29% of people have these symptoms
Acne
0001061
Hirsutism
Excessive hairiness
0001007
Oligomenorrhea
Light or infrequent menstrual periods
0000876
Urinary retention
0000016
1%-4% of people have these symptoms
Amenorrhea
Abnormal absence of menstruation
0000141
Menorrhagia
Abnormally heavy bleeding during menstruation
0000132
Urinary incontinence
Loss of bladder control
0000020

Cause

The cause of Fowler's syndrome is not known. It is due to a spasm in a band of muscle that is found at the exit of the bladder, but what causes this muscle to spasm is unknown. Fowler's syndrome is seen more often in women who have had a surgical procedure, childbirth, opiate exposure or a sudden medical condition, such as an infection or illness.[1][2][3]

Diagnosis

Fowler’s syndrome is difficult to diagnose. Diagnosis usually involves ruling out more common causes of urinary retention (the inability to empty the bladder). In addition, it may be necessary to determine how much urine the bladder can hold without the person feeling like she has to go to the bathroom. In women with Fowler's syndrome, a test known as a concentric needle electromyography (EMG) often shows a characteristic abnormality.[1][4]

Treatment

Treatment of Fowler’s syndrome is focused on managing the main symptom of being unable to empty the bladder. Fowler's syndrome may be treated by a technique known as sacral neuromodulation (SNM) therapy. A device is implanted in the body to help stimulate the nerves to the bladder. SNM therapy may involve more than one surgery and may not work for everyone.[1][2][3]

Specialists involved in the care of someone with Fowler's syndrome may include:[3]

  • Gynecologist
  • Urologist

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 Supporting this Disease

    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.

    In-Depth Information

    • 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.
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Fowler's syndrome. Click on the link to view a sample search on this topic.

      References

      1. Trachta J, Wachter J, Kriz J. Chronic Urinary Retention due to Fowler's Syndrome. European J Pediatr Surg Rep. 2018; 6(1):e77-e80. https://pubmed.ncbi.nlm.nih.gov/30473987.
      2. Osman NI, Chapple CR. Fowler's syndrome--a cause of unexplained urinary retention in young women?. Nat Rev Urol. 2014; 11(2):87-98. https://pubmed.ncbi.nlm.nih.gov/24323131.
      3. Hoeritzauer I, Phé V, Panicker JN. Urologic symptoms and functional neurologic disorders. Handb Clin Neurol. 2016; 139:469-481. https://pubmed.ncbi.nlm.nih.gov/27719863.
      4. Hoeritzauer I, Stone J, Fowler C, Elneil-Coker S, Carson A, Panicker J. Fowler's syndrome of urinary retention: A retrospective study of co-morbidity. Neurourol Urodyn. 2016; 35(5):601-603. https://pubmed.ncbi.nlm.nih.gov/25865606.
      5. Karmarkar , Abtahi B, Saber-Khalaf M, Gonzales G, Elneil S. Gynaecological pathology in women with Fowler's syndrome. Eur J Obstet Gynecol Reprod Biol. 2015; 194:54-57. https://pubmed.ncbi.nlm.nih.gov/26340452.

      Rare Pulmonology News