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For Patients and Families

What is heterotaxy?

Heterotaxy is a rare condition in which the internal organs are not arranged in the correct orientation across the left-right axis of the body. It affects about 1 in every 10,000 births. Children born with this condition might have heart defects at birth, gastrointestinal malrotation, abnormal positioning and function of the spleen, lung disease, and other internal organ problems. Heterotaxy is often caused by genetic mutations. Every patient with heterotaxy is different, and the severity of the condition is variable. A careful and thorough evaluation by specialists is an important way to make sure that every person with heterotaxy gets the care and surveillance they need.

What is the scientific definition of heterotaxy?

Heterotaxy is the abnormal assembly of the thoracic or abdominal organs across the left-right axis that is not situs inversus totalis and that may or may not involve congenital cardiovascular malformations or atrialisomerism.

Where can I find help?

The Heterotaxy Research and Clinical Care Collaborative is working hard to develop regional centers of excellence so that every patient can have easy access to specialists and heterotaxy experts. Please visit Heterotaxy Connection, our partner patient advocacy group, to find out how to connect with a heterotaxy expert.

What is Heterotaxy Connection?

Heterotaxy Connection is a registered 501(c)3 non-profit dedicated to supporting, educating and
empowering families affected by Heterotaxy Syndrome. Heterotaxy Connection and Heterotaxy

Research and Clinical Care Collaborative work very closely together to support patients and families,
make scientific discoveries and improve clinical care.

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