lung agenesis-heart defect-thumb anomalies syndrome
MeSH: C535708ORPHA: 1120
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with lung agenesis-heart defect-thumb anomalies syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal rib morphologyCongenital diaphragmatic herniaAbnormal thumb morphologyPreaxial hand polydactylyTriphalangeal thumbSeizureAtrial septal defectPatent ductus arteriosusAbnormal aortic valve morphologyBicuspid aortic valveCoarctation of aortaTalipes equinovalgusRespiratory insufficiencyAbnormal lung lobationVentriculomegalySpina bifidaVertebral segmentation defectTricuspid regurgitationAtrioventricular canal defectAplasia/Hypoplasia of the lungsBilateral single transverse palmar creasesProximal placement of thumbShort thumbShort distal phalanx of fingerAnomalous pulmonary venous returnAbnormal helix morphology
Classification & Codes
MeSH Code
C535708Orphanet Code
ORPHA:1120lung agenesis-heart defect-thumb anomalies syndrome
| MeSH | C535708 |
| Orphanet | ORPHA:1120 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO