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)|
|Abnormal lung lobation||50%|
|Abnormality of the aorta||50%|
|Anomalous pulmonary venous return||50%|
|Aplasia/Hypoplasia of the lungs||50%|
|Atria septal defect||50%|
|Patent ductus arteriosus||50%|
|Abnormality of the aortic valve||7.5%|
|Abnormality of the helix||7.5%|
|Abnormality of the ribs||7.5%|
|Abnormality of the tricuspid valve||7.5%|
|Aplasia/Hypoplasia of the thumb||7.5%|
|Complete atrioventricular canal defect||7.5%|
|Congenital diaphragmatic hernia||7.5%|
|Preaxial hand polydactyly||7.5%|
|Proximal placement of thumb||7.5%|
|Short distal phalanx of finger||7.5%|
|Single transverse palmar crease||7.5%|
|Vertebral segmentation defect||7.5%|
|Abnormality of the cardiac septa||-|
|Autosomal recessive inheritance||-|
|Bilateral lung agenesis||-|
|Coarctation of aorta||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.