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 | ||
Abnormality of the clitoris |
Abnormality of the clit
|
0000056 |
Bladder exstrophy | 0002836 | |
Cloacal exstrophy | 0010475 | |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Omphalocele | 0001539 | |
Vesicoureteral reflux | 0000076 | |
30%-79% of people have these symptoms | ||
Abnormality of fibula morphology |
Abnormality of the calf bone
|
0002991 |
Abnormality of tibia morphology |
Abnormality of the shankbone
Abnormality of the shinbone
[ more ]
|
0002992 |
Absent foot | 0011301 | |
Anal atresia |
Absent anus
|
0002023 |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Intestinal |
Bowel duplication
|
0100668 |
Intestinal malrotation | 0002566 | |
Myelomeningocele | 0002475 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
5%-29% of people have these symptoms | ||
Abnormal fallopian tube morphology | 0011027 | |
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ]
|
0000086 |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Hydroureter | 0000072 | |
Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
Ureterocele | 0000070 | |
Ureteropelvic junction obstruction | 0000074 | |
Percent of people who have these symptoms is not available through HPO | ||
11 pairs of ribs | 0000878 | |
Absence of the sacrum | 0010305 | |
Absent scrotum | 0008707 | |
Ambiguous genitalia, female |
Atypical appearance of female genitals
|
0000061 |
Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
Anteriorly placed anus | 0001545 | |
Arnold-Chiari malformation | 0002308 | |
Bifid uterus | 0000136 | |
Dislocated hip since birth
|
0001374 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Duplicated collecting system | 0000081 | |
Duplicated colon | 0005223 | |
Epispadias | 0000039 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hydronephrosis | 0000126 | |
Labial hypoplasia |
Underdeveloped labia
|
0000066 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
0000125 | ||
Rectovaginal fistula |
Abnormal connection between rectum and vagina
|
0000143 |
Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
Sacral segmentation defect | 0008490 | |
Sporadic |
No previous family history
|
0003745 |
Tethered cord | 0002144 | |
Vesicovaginal fistula | 0001586 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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