trachea-esophageal birth defects

Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are the most commonly diagnosed birth defects related to the esophagus and trachea. These conditions occur when the trachea and esophagus do not fully separate during fetal development. EA causes the esophagus to not fully form, and as a result the esophagus does not connect to the stomach as it should. In some patients, a TEF can develop, which is an abnormal connection between the esophagus and trachea. 

Trachea-esophageal defects, such as EA and TEF, occur in about one out of every 3,000 live births. These types of birth defects may prevent proper breathing or feeding in newborn infants, but can be corrected with surgery (with a survival rate of over 90%). Conditions like EA and TEF may cause patients to experience health issues, such as difficulty swallowing or breathing problems, later in life. 

It is not yet well understood how these birth defects happen. There is compelling evidence that suggests there is a genetic cause, but specific genetic mutations are only known for 12% of trachea-esophageal cases worldwide. The goal of the CLEAR Consortium is to better understand the genetic causes of trachea-esophageal birth defects, and to improve the health outcomes and quality of life of patients. 

Click here to visit the Centers for Disease Control and Prevention (CDC) fact-page on Esophageal Atresia.

Participate in a study

We are inviting families to participate in a Ground Breaking research study that investigates genetic causes of EA/TEF.

• To participate, the study team will require a blood or saliva sample from children and/or adults with EA/TEF and their parents (if possible). Medical information about the person with EA/TEF in your family will also be obtained.

• Participation in the study is completely free and families from all over the world are eligible to take part.

• Interested families can be enrolled and kits can be mailed to your home to enable you to give your sample for the study. 

• Click here to download more information about the study.

• For more details or to participate please contact us at: info@clearconsortium.org

advocacy groups and support organizations

• The Federation of Esophageal Atresia and Tracheo-Esophageal Fistula Support Groups (EAT) is a European federation of family support groups which focus on sharing experiences, disseminating information and raising awareness of the EA condition.

• EA/TEF Child and Family Support Connection, Inc. was formed by and for families of children born with (Esophageal Atresia and Tracheoesophageal Fistula) EA/TEF and the medical professionals who treat them. They are dedicated to providing educational resources as well as emotional and practical support to aid in the daily care of our medically fragile children.

• Tracheo Oesophageal Fistula Support is a charity dedicated to improving the lives of all who were born with the TOF condition. For nearly forty years they have been helping families through the challenges of bringing up a child with TOF/OA, VACTERL and associated conditions. This is done by providing one-to-one support, and a range of information and resources to families.

• Canadian Esophageal Atresia Network (CEAN) is an organization run by individuals living with Esophageal Atresia (EA) and Tracheoesophageal Fistula (TEF). CEAN hopes to work toward creating a community of individuals with EA and TEF that can offer friendship, encouragement and information.

• OARA is an Australian Association provided for parents, families and patients born with the congenital deformity of Oesophageal Atresia and other related conditions. The Association has been set up to support families and individuals born with these conditions Australia wide, as well as raising much needed funds into research. 

• Born Unable to Swallow is small team, with big ideas. They are making a difference for families and providers. They are connecting and networking around the world to get answers to your medical and social needs. Visit the Born Unable to Swallow Facebook Support Group.

• Bridging the Gap of EA/TERF is a Facebook group whose goal is to bridge the gap of EA/TEF and assist in providing a single source resource guide and face-to-face support system for families to refer to when told their child has EA/TEF. 

Find a MEDICAL center in your area

THERE ARE CENTERS ACROSS THE UNITED STATES WITH EXPERTS IN TRACHE-ESOPHAGEAL BIRTH DEFECTS WHO CAN PROVIDE CLINICAL CARE, INSIGHT, AND SUPPORT FOR CHILDREN AND FAMILIES.