Chromosomal and Genetic Conditions

22q11.2 Deletion Syndrome Symptoms and Diagnosis

Symptoms of 22q11.2 Deletion Syndrome

Every baby with 22q11.2 deletion syndrome is different.

Some babies have facial differences. They might have ears that do not have a typical shape, a face that looks long, flat cheeks, eyelids that look hooded, noses that are not a typical shape, a narrow mouth and cleft palate.

Some children have other issues. They may have problems with their heart, kidneys, skeleton, immune system or throat. They also may have problems with feeding, breathing, speaking, hearing or learning. These problems may occur in different combinations.

22q11.2 Deletion Syndrome Diagnosis

To diagnose this syndrome, your doctor will examine your child and look for the specific issues that are linked with a 22q11.2 deletion. Since not all the same problems are found in all children with the syndrome, a careful exam is important. Doctors can also do genetic tests that show whether your child has the typical 22q11.2 deletion.

Your child may need other tests or procedures to learn more about their exact condition. For example, your child may need an ultrasound picture of their heart (echocardiogram) to see if they have any heart problems. The section on treatment explains more about how doctors find and treat many of the medical problems linked with 22q11.2 deletion syndrome.