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||-|
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