Manouvrier syndrome

Other Names: Lung agenesis heart defect thumb anomalies; Pulmonary aplasia and triphalangia of the thumb

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.

Inheritance

Autosomal recessive inheritance, a 25% chance

The condition is most probably hereditary, transmitted as an autosomal recessive trait.

Signs and symptoms

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Respiratory insufficiency(Respiratory impairment)

30%-79% of people have these symptoms

• Abnormal lung lobation
• Anomalous pulmonary venous return
• Aplasia/Hypoplasia of the lungs(Absent/small lungs)
• Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
• Coarctation of aorta(Narrowing of aorta)
• Death in infancy(Infantile death)
• Patent ductus arteriosus

5%-29% of people have these symptoms

• Abnormality of the helix
• Abnormality of the ribs(Rib abnormalities)
• Atrioventricular canal defect
• Bicuspid aortic valve(Aortic valve has two leaflets rather than three)
• Bilateral single transverse palmar creases
• Congenital diaphragmatic hernia
• Preaxial hand polydactyly(Extra thumb)
• Proximal placement of thumb(Attachment of thumb close to wrist)
• Seizure
• Short distal phalanx of finger(Short outermost finger bone)
• Short thumb(Short thumbs)
• Spina bifida
• Talipes equinovalgus
• Tricuspid regurgitation
• Triphalangeal thumb(Finger-like thumb)
• Ventriculomegaly
• Vertebral segmentation defect

NIH genetic and rare disease info

• NIH info on Manouvrier syndrome

Manouvrier syndrome is a rare disease.