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Disease Profile
Fowler’s syndrome
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.
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Age of onset
Childhood
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Symptoms
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
Diagnosis
Treatment
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
-
American Urogynecologic Society
2025 M Street NW, Suite 800
Washington, DC 20036
Telephone: 202-367-1167
Fax: 202-367-2167
E-mail: [email protected]
Website: https://www.augs.org/ -
National Association for Continence (NAFC)
P.O. Box 1019
Charleston, SC 29402-1019
Toll-free: 800-BLADDER
Telephone: 843-377-0900
Fax: 843-377-0905
E-mail: [email protected]
Website: https://www.nafc.org/ -
Urology Care Foundation
1000 Corporate Boulevard
Linthicum, MD 21090
Toll-free: 1–800–828–7866
Telephone: 410–689–3700
Fax: 410-689-3998
E-mail: [email protected]
Website: https://www.urologyhealth.org/index.cfm
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
- 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.
- 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.
- 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.
- 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.
- 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.
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