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Lung agenesis-heart defect-thumb anomalies syndrome

Synonym(s) Mardini-Nyhan syndrome
Prevalence <1 / 1 000 000
Inheritance -
Age of onset -
  • Q87.8
MeSH -
MedDRA -


Disease 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.


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.

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