What is a congenital anomaly?
A congenital anomaly is a structural abnormality or defect that is present at
birth. Such abnormalities commonly are called “birth defects”. A congenital
anomaly—or birth defect—can affect any part of the body and can affect the
body in different ways. Some congenital anomalies affect the way a person
looks, while others affect the way a part of the body works.
What causes congenital anomalies among people with DBA?
Currently, approximately 40% of people with DBA have a mutation (alteration)
in one of seven genes. All of these genes code for the cell structures which help
make body proteins. Additional genetic causes of DBA will likely be identified
in the future. Exactly how these mutations are related to congenital anomalies
is not known. Research has shown that some congenital anomalies are more
common in individuals with particular mutations. Variations in symptoms
and anomalies may be due to other yet to be discovered genetic factors or
environmental factors.
How common are congenital anomalies among people with DBA?
Some people with DBA will not have any congenital anomalies. However, nearly
half of those with DBA will have at least one anomaly, and about one quarter
of people with DBA will have more than one anomaly. The most common
anomalies involve the head and face, arms and hands, heart, and genitourinary
tract (including the kidneys, urinary tract, and genital organs) and are discussed
in the following sections. Other less common anomalies also can occur.
How serious are congenital anomalies among people with DBA?
While the congenital anomalies that most commonly affect those with DBA are
not life threatening, they can be severe. The severity can vary among persons
with DBA and can differ even among family members who have DBA.

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