Rare Disease Education: Esophageal Atresia & Tracheoesophageal Fistula

Diagram of Esophageal Atresia & Tracheoesophageal Fistula
Osmosis and the National Organization for Rare Diseases (NORD)

Rare Disease Education:  Esophageal Atresia & Tracheoesophageal Fistula

Editor: Kelsey LaFayette, DNP, RN, FNP-C

"When you hear hoofbeats, think of horses, not zebras,” is a common saying in medical education that means you should think of common conditions first, instead of rare ones, in making a diagnosis. “Rare” is a relative term though and about 7,000 rare, or "zebra," conditions affect more than 350 million individuals worldwide. Although these conditions collectively affect an enormous number of people,  each of these conditions individually is rare enough that it can be difficult to secure the resources to study them and to develop treatments and cures. Likewise, awareness of rare conditions may be low and health care professionals may not be familiar with their signs and symptoms making it more difficult to reach a correct diagnosis and provide effective treatments.  

To increase knowledge about rare conditions, Osmosis and the National Organization for Rare Diseases (NORD) have collaborated on an initiative to bring education and awareness to the public. We are excited to be a part of this initiative because we believe everyone deserves quality health care, no matter how rare their condition.

Zebra Highlight: Esophageal Atresia & Tracheoesophageal Fistula

This week, we’ll focus on esophageal atresia and tracheoesophageal fistula, two diseases caused by abnormal development of the esophagus and trachea in utero. Normally, the esophagus and trachea are two separate systems, one for passage of food and the other for passage of air, respectively. With esophageal atresia the esophagus fails to develop correctly, essentially ending in a blind pouch that is commonly connected to the trachea, creating a tracheoesophageal fistula. These two Zebra conditions usually occur together because the trachea and esophagus initially develop together and then separate later during fetal development. Infants born with these congenital defects typically have difficulty breathing and are unable to properly clear their saliva and secretions. Esophageal atresia and tracheoesophageal fistula are commonly associated with other congenital malformations and require surgical correction. 

Meet Greyson Workman, 3 years old

Click here to watch Fighting to Live, Greyson's Story

New to parenthood, the Workmans expected the birth of their son, Greyson, to go as smoothly as the pregnancy. Unfortunately, Greyson’s fight for his life started with his very first breath. Watch this family’s inspirational journey above.

Organizations Taking Strides

In 1975, Betty and Mike Mekdeci’s son was born with birth defects and their ensuing journey in his care led to the founding of the Birth Defect Research for Children, Inc. Since its inception, this non-profit has connected families with birth defects and supported them in dealing with the challenges ahead. They have also undertaken advocacy work, focused mainly on environmental causes of birth defects. 

Educational Video:

Click here to watch the video More Information on Esophageal Atresia & Tracheoesophageal Fistula


General Discussion

Signs & Symptoms


Affected Populations

Standard Therapies

Investigational Therapies


Supporting Organizations