Everything You Need To Know About Cornelia de Lange Syndrome
Treatment Options
Treatment for CdLS will require a team of doctors and other healthcare professionalssince this disorder affects many parts of the body. Examples of those commonly involved in this team are geneticists, plastic surgeons, gastroenterologists, cardiologists, speech pathologists, orthopedic surgeons, audiologists, as well as a pediatrician.
Though specific treatment strategies will vary based on each patient and how the disorder is affecting them, there are some typical options. For instance, since many CdLS patients have delayed or poor growth, they often receive either gastrostomy tube placement or supplemental feedings to help meet their nutritional requirements. Many patients also receive continuous speech, physical, and occupational therapy to assist in their development. Individuals with skeletal abnormalities and congenital heart defects stemming from CdLS may also be candidates for, or even require surgical intervention. Some gastrointestinal problems may also need surgery, although treatment to meet nutritional requirements, mentioned earlier, may still be necessary. Finally, when seizures are present in a patient’s CdLS, doctors may recommend anti-seizure medication to help alleviate the seizures.
Patient Prognosis
When treatment is started early and maintained effectively, most children diagnosed with Cornelia de Lange syndrome can expect a relatively normal life expectancy and live well into their adult years despite this condition. With that said, however, certain features do put patients at an increased risk of a decrease in their overall life expectancy. Such features include severe malformations of the patient’s heart or throat.
Although it is a rare congenital disorder, it is clear Cornelia de Lange syndrome is a severe condition. As such, the importance of understanding the symptoms and causes of this condition cannot be understated. After all, they are the stepping stones in determining how to treat CdLS effectively!
