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)|
|Abnormality of the pericardium||90%|
|Abnormality of the sternum||90%|
|Congenital diaphragmatic hernia||90%|
|Ventricular septal defect||90%|
|Aplasia/Hypoplasia of the lungs||50%|
|Atria septal defect||50%|
|Abnormality of the gallbladder||7.5%|
|Abnormality of the spleen||7.5%|
|Abnormality of the tibia||7.5%|
|Aplasia/Hypoplasia of the radius||7.5%|
|Displacement of the external urethral meatus||7.5%|
|Multicystic kidney dysplasia||7.5%|
|Non-midline cleft lip||7.5%|
|Tetralogy of Fallot||7.5%|
|Patent ductus arteriosus||-|
|Transposition of the great arteries||-|
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.
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. Suggest an organization to add.
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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My sister recently lost her unborn baby due to the baby having pentalogy of Cantrell. She was told by physicians here in the Philippines to get genetic counseling with regards to possible future pregnancies. I was wondering if there is a genetic counseling specialist on that disease that may help her and her husband. They are flying to the United States so can see someone there if possible. Any help would be appreciated. Thank you very much. See answer
I am a layperson and many articles I have seen are geared toward those with medical backgrounds. Has it been determined that pentalogy of Cantrell is genetic? Is it X-linked? Does this mean that male children are at risk? And how does this impact future siblings? See answer