Rare Psychiatry News
Disease Profile
Pentalogy of Cantrell
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Neonatal
ICD-10
Q89.7
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Cantrell pentalogy; Cantrell Haller Ravitsch syndrome; Cantrell syndrome;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases
Summary
Pentalogy of Cantrell is a condition characterized by a combination of midline
Symptoms
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 | ||
| Abnormal pericardium morphology | 0001697 | |
| Abnormal sternum morphology |
Abnormality of the sternum
Sternal anomalies
[ more ] |
0000766 |
| 0000776 | ||
| Omphalocele | 0001539 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| 30%-79% of people have these symptoms | ||
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
| Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
| 5%-29% of people have these symptoms | ||
| Abnormality of tibia morphology |
Abnormality of the shankbone
Abnormality of the shinbone
[ more ] |
0002992 |
| Absent gallbladder | 0011467 | |
| Anencephaly | 0002323 | |
| Aplasia/Hypoplasia of the radius | 0006501 | |
|
Cleft roof of mouth
|
0000175 | |
| Encephalocele | 0002084 | |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hypospadias | 0000047 | |
| Non-midline |
0100335 | |
| Polysplenia |
Multiple small spleens
|
0001748 |
| Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
| Renal dysplasia | 0000110 | |
| 0002650 | ||
| Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] |
0001171 |
| Talipes | 0001883 | |
| Tetralogy of Fallot | 0001636 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Cleft upper lip |
Harelip
|
0000204 |
| Cystic hygroma | 0000476 | |
| Ectopia cordis | 0001683 | |
| Patent ductus arteriosus | 0001643 | |
| Transposition of the great arteries | 0001669 | |
| Ventral hernia | 0002933 | |
| 0001417 | ||
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnosis includes limb body wall complex, omphalocele (see these terms), thoracic EC and amniotic bands (see this term).
Visit the Orphanet disease page for more information.
|
Organizations
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.
Organizations Supporting this Disease
-
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: +1-407-895-0802
E-mail: staff@birthdefects.org
Website: https://www.birthdefects.org/
Learn more
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.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pentalogy of Cantrell. Click on the link to view a sample search on this topic.
References
- Pentalogy of Cantrell. NORD. January 28, 2014; https://rarediseases.org/rare-disease-information/rare-diseases/byID/939/viewAbstract. Accessed 9/29/2014.
- Cantrell pentalogy. Orphanet. May, 2004; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335. Accessed 9/29/2014.
- van Hoorn JHL, Moonen RMJ, Huysentruyt CJR, van Heurn LWE, Offermans JPM, Twan Mulder ALM. Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. Eur J Pediatr. 2008;
- Meeker TM. Pentalogy of Cantrell: reviewing the syndrome with a case report and nursing implications. J Perinat Neonatal Nurs. April-June, 2009; 23(2):186-194. Accessed 9/29/2014.
- Smigiel R, Jakubiak A, Lombardi MP, Jaworski W, Slezak R, Patkowski D, Hennekam RC. Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell Case report and review of the literature. Am J Med Genet A. May, 2011; 155A(5):1102-1105. Accessed 9/29/2014.
- Singh N, Bera ML, Sachdev MS, Aggarwal N, Joshi R, Kohli V. Pentalogy of Cantrell with left ventricular diverticulum: a case report and review of literature. Congenit Heart Dis. September-October, 2010; 5(5):454-457. Accessed 9/29/2014.
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