Orpha Number: 210122
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 | ||
| Pulmonary arterial hypertension |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
| 30%-79% of people have these symptoms | ||
| Hypoplastic left heart |
Underdeveloped left heart
|
0004383 |
| Intestinal malrotation | 0002566 | |
| Patent ductus arteriosus | 0001643 | |
| 5%-29% of people have these symptoms | ||
| Abnormal vertebral morphology | 0003468 | |
| Absent gallbladder | 0011467 | |
| Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
| Anal atresia |
Absent anus
|
0002023 |
| Annular pancreas | 0001734 | |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| Asplenia |
Absent spleen
|
0001746 |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
|
0001631 |
| Atrioventricular canal defect | 0006695 | |
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Duodenal stenosis | 0100867 | |
| Hydronephrosis | 0000126 | |
| Pulmonary valve atresia | 0010882 | |
| Single umbilical artery | 0001195 | |
| Tetralogy of Fallot | 0001636 | |
| Tracheoesophageal fistula | 0002575 | |
| Ventricular septal defect | 0001629 | |
| Volvulus | 0002580 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal lung lobation | 0002101 | |
| Abnormality of the pulmonary veins |
Abnormality of lung veins
|
0011718 |
| 0000006 | ||
| 0000007 | ||
| Duodenal atresia | 0002247 | |
| Hydroureter | 0000072 | |
| Hypertension | 0000822 | |
| Meckel diverticulum | 0002245 | |
| Neonatal death |
Neonatal lethal
|
0003811 |
| Polyhydramnios | 0001561 | |
| Pulmonary insufficiency | 0010444 | |
| Right-to-left shunt | 0001694 | |
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.
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.
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
NORD Awards Five New Grants for Rare Disease Research
December 28, 2017
NORD Announces Research Grants Available for Study of Rare Diseases
August 24, 2016
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.
