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Disease Profile
Prune belly 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.
Unknown
Age of onset
Antenatal
ICD-10
Q79.4
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)
Eagle-Barrett syndrome; Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases
Summary
Prune belly
Symptoms
Common symptoms include:[1][2][4][5]
- Poorly developed and/or absent abdominal muscles
- Undescended testicles in males (cryptorchidism)
- Urinary tract problems such enlarged or blocked ureters (tubes that carry urine from the kidneys to the bladder)
- Enlarged bladder
- Enlarged kidney (hydronephrosis)
Other symptoms might include:[1][2][4][5]
- Cardiac defects
- Spine malformations
- Club foot
- Gastrointestinal anomalies
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
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Aplasia of the abdominal wall musculature | 0005199 | ||
Aplasia/Hypoplasia of the lungs |
Absent/small lungs
Absent/underdeveloped lungs
[ more ] |
0006703 | |
0010957 | |||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Decreased fertility |
Abnormal fertility
|
0000144 | |
Hydroureter | 0000072 | ||
0100521 | |||
Vesicoureteral reflux | 0000076 | ||
30%-79% of people have these symptoms | |||
Abnormality of the ribs |
Rib abnormalities
|
0000772 | |
Chest pain | 0100749 | ||
Constipation | 0002019 | ||
Cough |
Coughing
|
0012735 | |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 | |
Diaphragmatic paralysis |
Paralyzed diaphragm
|
0006597 | |
Dysgammaglobulinemia | 0002961 | ||
Dyspnea |
Trouble breathing
|
0002094 | |
Decreased immune function
|
0002721 | ||
Mediastinal lymphadenopathy |
Swollen lymph nodes in center of chest
|
0100721 | |
Multicystic kidney dysplasia | 0000003 | ||
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 | |
Palpebral edema |
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids
[ more ] |
0100540 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 | |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 | |
5%-29% of people have these symptoms | |||
Abnormal bleeding |
Bleeding tendency
|
0001892 | |
Abnormality of the uterus |
Uterine abnormalities
Uterine malformations
[ more ] |
0000130 | |
Anal atresia |
Absent anus
|
0002023 | |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 | |
Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ] |
0002960 | |
Cardiac arrest |
Heart stops beating
|
0001695 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 | |
Congenital hip dislocation |
Dislocated hip since birth
|
0001374 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | ||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 | |
Fatigable weakness | 0003473 | ||
Headache |
Headaches
|
0002315 | |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 | |
Intestinal atresia | 0011100 | ||
Intestinal malrotation | 0002566 | ||
Language impairment | 0002463 | ||
Neuroendocrine neoplasm | 0100634 | ||
Patent ductus arteriosus | 0001643 | ||
Pectus excavatum |
Funnel chest
|
0000767 | |
Pericarditis |
Swelling or irritation of membrane around heart
|
0001701 | |
Drooping upper eyelid
|
0000508 | ||
0002650 | |||
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 | |
Tetralogy of Fallot | 0001636 | ||
Urogenital sinus anomaly | 0100779 | ||
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 | |
Vertebral segmentation defect | 0003422 | ||
Volvulus | 0002580 | ||
Percent of people who have these symptoms is not available through HPO | |||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 | |
Abnormality of the skin | 0000951 | ||
0000007 | |||
Hydronephrosis | 0000126 | ||
Pectus carinatum |
Pigeon chest
|
0000768 | |
Prune belly | 0004392 | ||
Xerostomia |
Dry mouth
Dry mouth syndrome
Reduced salivation
< Cause The underlying cause of PBS is unknown. PBS can occur in association with trisomy 18 and trisomy 21 (Down
There are several theories regarding the development of prune belly syndrome. Some researchers think it may occur if there is a blockage preventing the flow of urine through the urinary tract. The blockage can cause the urine to flow back into the bladder, enlarging it. While other researchers consider the urinary abnormalities to be secondary to the incomplete development of the bladder.[2][3] DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
Treatment The initial evaluation of the newborn with PBS requires a team consisting of a
In general, surgery may be done to repair abdominal muscle, genital, and bladder problems. Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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
Social Networking Websites
Learn moreThese 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
In-Depth Information
References
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