This diagnosis is made when the child shows some characteristics that are likely caused by a problem in his or her genetic make-up. The cause could be due to hereditary factors or due to complications during development when the fetus’ cells were reproducing. If the child was not diagnosed at birth or very early on, chances are symptoms are subtle. Symptoms usually consist of physical characteristics that may be slightly different or atypical. For instance a child may have a prominent forehead, smaller chin, widespread eyes, broader nose, be taller or shorter in stature compared to same-aged peers, or sometimes have reduced neurocognitive functioning (e.g., learning challenges, language problems, intellectual disability, attention-deficit, etc.). The child may also show evidence of other medical abnormalities such as club foot, cleft pallet, and/or heart or lung complication. A child may present with several or only a few of these symptoms.
Genetic testing may narrow down the specific cause. However, sometimes a specific diagnosis cannot be made due to the subtle nature of symptoms or due to a complicated presentation that does not fit common genetic disorders. Very often genetic abnormalites are not degenerative, that is, they don’t worsen. The best approach to treating a child with a genetic condition is to focus on his or her specific symptoms that may include academic support, and behavioral and rehabilitative therapies. If a child also has a medical complication, then he or she should be followed closely by the child’s physician.