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||
|80%-99% of people have these symptoms|
|Aplasia/Hypoplasia of the sacrum||
Absent/underdeveloped sacrum[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the intestine||0002242|
Cleft of scrotum
|Hypoplasia of penis||
|Lower limb asymmetry||0100559|
|1%-4% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
Bloating[ more ]
Narrowing of anal opening
|Anterior sacral meningocele||0007293|
Infrequent bowel movements
Obstruction in digestive tract
|Recurrent urinary tract infections||
Frequent urinary tract infections
Urinary tract infection
Urinary tract infections
Urinary tract infections, recurrent[ more ]
Loss of bladder control
Making 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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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Can there be a presacral mass with no anal malformation in Currarino triad? See answer