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

MedGen UID:
477585
Concept ID:
C3275954
Disease or Syndrome
Synonyms: Congenital lung agenesis; LACHT; MARDINI-NYHAN ASSOCIATION; Unilateral lobar pulmonary agenesis
 
Monarch Initiative: MONDO:0011116
OMIM®: 601612
Orphanet: ORPHA1120

Definition

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:
1617
Concept ID:
C0003492
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
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:
6752
Concept ID:
C0018816
Congenital Abnormality
An anomaly of the intra-atrial or intraventricular septum.
Abnormal cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and blood vessels.
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
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:
75584
Concept ID:
C0265766
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:
867250
Concept ID:
C4021610
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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