The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Pulmonary arterial hypertension | Very frequent (present in 80%-99% of cases) |
| Respiratory distress | Very frequent (present in 80%-99% of cases) |
| Hypoplastic left heart | Frequent (present in 30%-79% of cases) |
| Intestinal malrotation | Frequent (present in 30%-79% of cases) |
| Patent ductus arteriosus | Frequent (present in 30%-79% of cases) |
| Abnormality of the vertebrae | Occasional (present in 5%-29% of cases) |
| Absent gallbladder | Occasional (present in 5%-29% of cases) |
| Aganglionic megacolon | Occasional (present in 5%-29% of cases) |
| Anal atresia | Occasional (present in 5%-29% of cases) |
| Annular pancreas | Occasional (present in 5%-29% of cases) |
| Aortic valve stenosis | Occasional (present in 5%-29% of cases) |
| Asplenia | Occasional (present in 5%-29% of cases) |
| Atrial septal defect | Occasional (present in 5%-29% of cases) |
| Bicuspid aortic valve | Occasional (present in 5%-29% of cases) |
| Duodenal stenosis | Occasional (present in 5%-29% of cases) |
| Hydronephrosis | Occasional (present in 5%-29% of cases) |
| Pulmonary valve atresia | Occasional (present in 5%-29% of cases) |
| Single umbilical artery | Occasional (present in 5%-29% of cases) |
| Tetralogy of Fallot | Occasional (present in 5%-29% of cases) |
| Tracheoesophageal fistula | Occasional (present in 5%-29% of cases) |
| Ventricular septal defect | Occasional (present in 5%-29% of cases) |
| Volvulus | Occasional (present in 5%-29% of cases) |
| Abnormal lung lobation | - |
| Abnormality of the pulmonary veins | - |
| Autosomal dominant inheritance | - |
| Autosomal recessive inheritance | - |
| Duodenal atresia | - |
| Hydroureter | - |
| Hypertension | - |
| Meckel diverticulum | - |
| Neonatal death | - |
| Polyhydramnios | - |
| Pulmonary insufficiency | - |
| Right-to-left shunt | - |
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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