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Lung agenesis-heart defect-thumb anomalies syndrome(LACHT)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Congenital lung agenesis; LACHT; MARDINI-NYHAN ASSOCIATION; Unilateral lobar pulmonary agenesis
Monarch Initiative: MONDO:0011116
OMIM®: 601612
Orphanet: ORPHA1120


The Mardini-Nyhan association comprises uni- or bilateral lung agenesis, complex cardiac defects, particularly total anomalous pulmonary venous return (TAPVR), and thumb abnormalities (summary by Hastings et al., 2009). [from OMIM]

Clinical features

From HPO
Coarctation of aorta
MedGen UID:
Concept ID:
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Patent ductus arteriosus
MedGen UID:
Concept ID:
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Abnormal cardiac septum morphology
MedGen UID:
Concept ID:
Congenital Abnormality
An anomaly of the intra-atrial or intraventricular septum.
Abnormality of cardiovascular system morphology
MedGen UID:
Concept ID:
Congenital Abnormality
Any structural anomaly of the heart and great vessels.
Respiratory insufficiency
MedGen UID:
Concept ID:
Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Tracheal atresia
MedGen UID:
Concept ID:
Congenital Abnormality
A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.
Bilateral lung agenesis
MedGen UID:
Concept ID:
Congenital Abnormality
Bilateral lack of development of the lungs.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLung agenesis-heart defect-thumb anomalies syndrome

Supplemental Content

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