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 |
Hole in heart wall separating two upper heart chambers
An opening in the wall separating the top two chambers of the heart
[ more ]
|
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 |
Only one artery in umbilical cord instead of two
|
0001195 |
| Tetralogy of Fallot | 0001636 | |
| Tracheoesophageal fistula | 0002575 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Volvulus | 0002580 | |
| 1%-4% of people have these symptoms | ||
| Arnold-Chiari malformation | 0002308 | |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Butterfly vertebrae | 0003316 | |
| 0410030 | ||
|
Cleft roof of mouth
|
0000175 | |
| 0030889 | ||
| Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
| Dilatation of the bladder | 0010955 | |
| Duodenal atresia |
Absence or narrowing of first part of small bowel
|
0002247 |
| Esophageal atresia |
Birth defect in which part of esophagus did not develop
|
0002032 |
| Global |
0001263 | |
| Hydroureter | 0000072 | |
| Interrupted aortic arch | 0011611 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Meckel diverticulum | 0002245 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Neonatal death |
Neonatal lethal
|
0003811 |
| Omphalocele | 0001539 | |
| Partial anomalous pulmonary venous return | 0010773 | |
| Posterior rib fusion | 0000913 | |
| Pulmonary artery dilatation | 0004927 | |
| Pulmonary lymphangiectasia | 0006521 | |
| Syringomyelia |
Fluid-filled cyst in spinal cord
|
0003396 |
| Ventriculomegaly | 0002119 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal lung lobation | 0002101 | |
| 0000006 | ||
| Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ]
|
0002643 |
| Polyhydramnios |
High levels of amniotic fluid
|
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.
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.
