Chromosomal and genetic disorders are conditions that are caused by abnormalities in a child’s 46 chromosomes. While some disorders affect an entire chromosome, many only change one or a few genes within a chromosome. Conditions may result in the duplication of chromosomes or genes, missing chromosomes or genes, and otherwise altered chromosomes or genes.

When instructions in genes are missing/incomplete or duplicated, the body may not develop and function as it should. Even minor changes in these instructions, depending on what they are, can make big differences in development.

Symptoms

Children with chromosome abnormalities may exhibit a wide range of symptoms. Commonly, many have low muscle tone, which leads to a poor suck response or feeding problems. Developmental delays are very common. Children may also have other structural conditions that interfere with eating.

Tests

While prenatal screening can identify some of the most common chromosomal disorders, it is not detailed enough to find many of the less common disorders. Genetic testing often comes much later in the diagnostic journey, particularly if there aren’t any outward signs of a genetic condition. We have additional information about genetic testing, including Whole Exome Testing, in the section on Tests.

Many people are aware of a number of the named syndromes associated with more prevalent chromosome disorders, such as Down Syndrome. However, the mapping of the genome brought forth new technology to identify less common abnormalities. Now with Whole Exome Testing, which looks at a child’s entire genome, there are many, many more disorders being identified. Some are even so unique that there may only be one or a dozen people affected.

Diagnosis

Common chromosomal disorders that can cause feeding problems are listed in the Condition List.