Manouvrier Syndrome

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UMLS 71 C2930988

NIH Rare Diseases : ⁵² 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. 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.

MalaCards based summary : Manouvrier Syndrome, also known as pulmonary aplasia and triphalangia of the thumb, is related to lung agenesis, congenital heart defects, and thumb anomalies syndrome. Affiliated tissues include heart and lung.

Search Clinical Trials , NIH Clinical Center for Manouvrier Syndrome

Search GEO for disease gene expression data for Manouvrier Syndrome.