lung agenesis-heart defect-thumb anomalies syndrome
MONDO:0011116Mondo
Findings
No curated finding names lung agenesis-heart defect-thumb anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011116), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Respiratory insufficiencyHPOHP:0002093
- Very frequent (80% to 99% of cases)
- Abnormal lung lobationHPOHP:0002101
- Frequent (30% to 79% of cases)
- Anomalous pulmonary venous returnHPOHP:0010772
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Frequent (30% to 79% of cases)
- Atrial septal defectHPOHP:0001631
- Frequent (30% to 79% of cases)
- Coarctation of aortaHPOHP:0001680
- Frequent (30% to 79% of cases)
- Patent ductus arteriosus
Show the remaining 14
- Bicuspid aortic valveHPOHP:0001647
- Occasional (5% to 29% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Occasional (5% to 29% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Occasional (5% to 29% of cases)
- Preaxial hand polydactylyHPOHP:0001177
- Occasional (5% to 29% of cases)
- Proximal placement of thumbHPOHP:0009623
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: lung agenesis-heart defect-thumb anomalies syndrome
- Also called
- Mardini-Nyhan syndrome