What is it?

Abnormal lung development varies from mild pulmonary hypoplasia and agenesis of a lobe or a whole lung. Pulmonary hypoplasia means that the lungs are abnormally small, and do not contain enough lung tissue so that the baby is able to breathe on his or her own. Agenesis is a rare congenital anomaly that refers to a total absence of lung tissue, blood vessels, and bronchi. Pulmonary agenesis may be linked to other malformations including urogenital, cardiac, gastrointestinal and cardiac defects. It could be part of the VACTREL sequence and Goldenhar syndrome. Pulmonary hypoplasia may be secondary to oligohydramnios, congenital diaphragmatic hernia, heart defects, lung cysts and more.

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Agenesis, hypoplasia, and dysplasia of lung.

Signs & symptoms

Diagnosis may be done during pregnancy, if seen on an ultrasound examination. If this condition is suspected, a fetal echocardiogram and a fetal MRI may be done. After birth the condition is suspected in babies with decreased breathing sounds and displacement of the mediastinum. Further evaluation may include echocardiogram, and chest imaging.


Symptoms include shortness of breath,lack of appetite and poor weight gain.


Treatment for agenesis is mainly supportive. For hypoplasia, depending on the underlying cause, treatment may include fetal surgery.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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