• Disease Overview
  • Synonyms
  • Signs & Symptoms
  • Causes
  • Affected Populations
  • Disorders with Similar Symptoms
  • Diagnosis
  • Standard Therapies
  • Clinical Trials and Studies
  • References
  • Programs & Resources
  • Complete Report

Emphysema, Congenital Lobar


Last updated: April 17, 2008
Years published: 1992, 2003

Disease Overview

Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases of congenital lobar emphysema may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic).

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  • CLE
  • Congenital Pulmonary Emphysema
  • Emphysema, Localized Congenital
  • Lobar Emphysema, Infantile
  • Lobar Tension Emphysema in Infancy
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Signs & Symptoms

Congenital lobar emphysema is characterized by (1) difficulty in breathing or very rapid respiration (respiratory distress) in infancy, (2) an enlarged chest due to overinflation of at least one lobe of the lung, (3) compressed normal lung tissue in the section of the lung nearest to the diseased lobe, (4) bluish color of the skin due to a lack of oxygen in the blood (cyanosis), and (5) underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia).

Congenital lobar emphysema most often affects the upper lobe of the left lung and, less frequently, the middle right lobe. It may cause the lung tissue to be very fragile and to collapse easily.

Experience suggests that the earlier the age of onset of congenital lobar emphysema, the more likely it is that the symptoms will get worse and lung function will degenerate as well.

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Congenital lobar emphysema may result from unknown causes or it may be inherited. Many cases are sporadic, (unknown causes) but others are transmitted by autosomal dominant genes.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Developmentally, congenital lobar emphysema may be the result of abnormally small air sacs (alveoli) in the lung or an unusual structure of the large airways (bronchi).

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Affected populations

About 50% of cases occur in the first four weeks after birth. About 75% of cases are found in infants less than six months of age. This disorder is more common among boys than among girls.

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The extent of disease is determined by radiological investigation, including X-rays, computed-assisted tomography (CAT) and magnetic resonance imaging (MRI). These scans can determine exactly which part of the lung and which lobe of the lung is affected and to what degree.

Lung function tests are also valuable studies in helping the doctor determine exactly which part of the lung is affected and if surgery is necessary.

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Standard Therapies


Treatment of congenital lobar emphysema depends on the extent of damage to the lungs at the time of diagnosis. When the lung damage is limited, the disease may not cause any adverse affects. However, if the condition seriously affects the patient's ability to breathe, the usual treatment is the surgical removal (resection) of the affected lobe of the lung or the whole lung on the affected side.

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:


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Behrman RE, Kliegman RM, Arvin AM. Eds. Nelson Textbook of Pediatrics. 15th ed. W.B. Saunder Company. Philadelphia, PA; 1996:1227.


Babu R, Kyle P, Spicer RD. Prenatal sonographic features of congenital lobar emphysema. Feat Diagn Ther. 2001;16:200-02.

Schwartz DS, Reyes-Mugica M, Keller MS. Imaging of surgical diseases of the newborn chest. Interpleural mass lesions. Radiol Clin North Am. 1999;37:1067-78.


Rothenberg SS. Experience with thoracoscopic lobectomy in infants and children. J Pediatr Surg. 2003;38:102-04.

Babu R, Kyle P, Spicer RD. Prenatal sonographic features of congenital lobar emphysema. Feat Diagn Ther. 2001;16:200-02.

Quinton AE, Smoleniec JS. Congenital lobar emphysema – the disappearing chest mass: antenatal ultrasound appearance. Ultrasound Obstet Gynecol. 2001;17:169-71.

Olutoye OO, Coleman BG, Hubbard AM, et al. Prenatal diagnosis and management of congenital lobar emphysema. J Pediatr Surg. 2000;35:792-95.

Wansaicheong GK, Ong CL. Congenital lobar emphysema: antenatal diagnosis and follow up. Australas Radiol. 1999;43:243-45.

Lacy DE, Shaw NJ, Pilling DW, et al. Outcome of congenital lung abnormalities detected antenatally. Acta Paediatr. 1999;88:454-58.

Phillipos EZ, Libsekal K. Flexible bronchoscopy in the management of congenital lobar emphysema in the neonate. Can Respir J. 1998;5:219-21.


Cincinnati Children’s Hospital Medical Center. Congenital Lobar Emphysema. 2001:1p.


Ordonez P. Congenital Lobar Emphysema. Neonatology on the Web. Last modified: 2/20/97:2pp.


De Milto L. Congenital Lobar Emphysema. A HealthyMe!. Last Updated: January 28, 2003:3pp.


Wood BP. Congenital Lobar Emphysema. eMedicine. Last Updated; December 7, 2001:9pp


McKusick VA, Ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Entry Number; 130710: Last Edit Date; 9/24/1994.

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Programs & Resources

RareCare® Assistance Programs

NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.

Additional Assistance Programs

MedicAlert Assistance Program

NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/

Rare Disease Educational Support Program

Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/

Rare Caregiver Respite Program

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/

Patient Organizations

No patient organizations found related to this disease state.

National Organization for Rare Disorders