Orpha Number: 2473
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 | ||
| Hydrometrocolpos | 0030010 | |
| 30%-79% of people have these symptoms | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Glandular hypospadias | 0000807 | |
| Hydronephrosis | 0000126 | |
| Postaxial hand |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
|
0001162 |
| Urogenital sinus anomaly | 0100779 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
| 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 |
|
Short fingers or toes
|
0001156 | |
|
Cleft roof of mouth
|
0000175 | |
| Ectopic anus |
Abnormal anus position
|
0004397 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Finger |
0006101 | |
| Global |
0001263 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypoplastic left heart |
Underdeveloped left heart
|
0004383 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Multicystic kidney dysplasia | 0000003 | |
| Patent ductus arteriosus | 0001643 | |
| Postaxial foot polydactyly |
Extra toe attached near the little toe
|
0001830 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Tarsal synostosis |
Fused ankle bones
|
0008368 |
| Tetralogy of Fallot | 0001636 | |
| Urethral stricture | 0012227 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| 1%-4% of people have these symptoms | ||
| Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| 0000007 | ||
|
Dislocated hip since birth
|
0001374 | |
| Edema |
Fluid retention
Water retention
[ more ]
|
0000969 |
| Hydroureter | 0000072 | |
| Mesoaxial hand polydactyly | 0006159 | |
| Pedal edema |
Fluid accumulation in lower limbs
Lower leg swelling
[ more ]
|
0010741 |
| Polycystic kidney dysplasia | 0000113 | |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ]
|
0002089 |
| Rectovaginal fistula |
Abnormal connection between rectum and vagina
|
0000143 |
| Syndactyly |
Webbed fingers or toes
|
0001159 |
| Transverse vaginal septum | 0000145 | |
| Vaginal atresia |
Abnormally closed or absent vagina
|
0000148 |
| Vesicovaginal fistula | 0001586 | |
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
