National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Manouvrier syndrome


Other Names:
Lung agenesis heart defect thumb anomalies; Pulmonary aplasia and triphalangia of the thumb
Categories:
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.
Last updated: 6/1/2011

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.

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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
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Last updated: 7/1/2020

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.

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