XVII: Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations, deformations, and chromosomal abnormalities are a group of conditions that are present at birth. They can be caused by a variety of factors including genetic influences, environmental effects, or certain maternal health factors, such as illness or medication use during pregnancy. These conditions might result in physical or structural deformities, such as heart defects or limb malformations, or chromosomal abnormalities, such as Down syndrome. They often present with symptoms immediately noticeable or that become apparent as a child grows and develops. Disease progression is diverse, as it hugely relies on the nature and severity of the condition. These abnormalities can affect various systems in the body including the nervous, cardiovascular and musculoskeletal systems, among others. Despite the wide range of symptoms and outcomes associated with these conditions, many individuals with congenital malformations or chromosomal abnormalities can lead fulfilling and productive lives with appropriate care and support.