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Disease Profile
Manouvrier syndrome
Prevalence
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.
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
Antenatal
ICD-10
Q87.8
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)
Lung agenesis heart defect thumb anomalies; Pulmonary aplasia and triphalangia of the thumb
Categories
Congenital and Genetic Diseases; Lung Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1120
Definition
Lung agenesis heart defect thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.
Epidemiology
It has been described in 7 patients.
Cardiac abnormalities are variable and mainly consist of atrial septal defect, anomalous pulmonary venous return or patent ductus arteriosus. Thumb anomalies include triphalangeal, proximally placed, hypoplastic or reduplicated thumb. One patient had a preaxial polydactyly with a rudimentary thumb. Other malformations can be also observed. The affected patients have normal intellectual development.
The condition is most probably hereditary, transmitted as an autosomal recessive trait .
Visit the Orphanet disease page for more resources.
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 | ||
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| 30%-79% of people have these symptoms | ||
| Abnormal lung lobation | 0002101 | |
| Anomalous pulmonary venous return | 0010772 | |
| Aplasia/Hypoplasia of the lungs |
Absent/small lungs
Absent/underdeveloped lungs
[ more ] |
0006703 |
| 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 |
| Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 |
| Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
| Patent ductus arteriosus | 0001643 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of the helix | 0011039 | |
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
| Atrioventricular canal defect | 0006695 | |
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Bilateral single transverse palmar creases | 0007598 | |
| 0000776 | ||
| Preaxial hand |
Extra thumb
|
0001177 |
| Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
| 0001250 | ||
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short thumb |
Short thumbs
Small thumbs
[ more ] |
0009778 |
| Spina bifida | 0002414 | |
| Talipes equinovalgus | 0001772 | |
| Tricuspid regurgitation | 0005180 | |
| Triphalangeal thumb |
Finger-like thumb
|
0001199 |
| Ventriculomegaly | 0002119 | |
| Vertebral segmentation defect | 0003422 | |
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.
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.
- 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 Manouvrier syndrome. Click on the link to view a sample search on this topic.