Lung agenesis-heart defect-thumb anomalies syndrome

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Synonyms: Mardini-Nyhan syndrome

A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis complex congenital cardiac anomalies such as atrial septal defect total anomalous pulmonary venous return or patent ductus arteriosus and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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