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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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.

Clinical description
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.

Genetic counseling
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
Congenital diaphragmatic hernia
0000776
Preaxial hand polydactyly
Extra thumb
0001177
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Seizure
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.