Cornelia de Lange Syndrome is a disorder that affects the development of a child. Various parts of the body are affected by the syndrome. Physical abnormities are the primary characteristics of CdLS. A child born with the syndrome has distinctive facial features such as low-set ears, arched eyebrows that converge at the middle, small nose with upturned nostrils, long eyelashes, small and widely spaced teeth, and lip malformations. CdLS also causes low birth weight and stunted growth. A child suffering from the syndrome will also have an intellectual disability. Some patients can show autistic tendencies as well. CdLS also affects the extremities, particularly the upper ones. The degree of the syndrome determines the severity of the characteristics.
The symptoms of Cornelia de Lange Syndrome vary from mild to severe. A child with mild CdLS can live a normal life with the right supervision. It is said that 1 in every 10,000 children are born with CdLS. With the proper diagnosis, it is possible to manage the syndrome and provide a child with a good quality life. A few cases of severe CdLS end up in fatalities. Most of these result from heart complications, which are some of the characteristics of the syndrome. Other health problems such as bowel abnormalities, diaphragmatic hernia, and gastrointestinal reflux disease can also lead to the death of a CdLS patient. There have also been reported cases of individual dying from aspiration pneumonia, post-surgical complications, recurrent apnea, and bronchial asthma, just to mention a few.
Life expectancy in CdLS patients will vary depending on various factors. Besides proper and prompt diagnosis, another element that can improve the life expectancy is working with specialists. It is vital to get doctors who are familiar with the syndrome to help with its management. Specialists will not only provide medical care but relevant information as well. A parent taking care of a child with CdLS should be aware of the best ways to go about it. Genetic counseling is also imperative for families with a child suffering from CdLS. An expert in CdLS will refer a patient to other specialists such as geneticists to provide guidance. A parent must also know how to transition a child from pediatric care to the school system and finally, adulthood. It is necessary as well to have individualized treatment and management options for a specific family and patient. Having professional guidance will make this less challenging.
Supervision is another aspect that improves the lifespan of a CdLS patient. A child suffering from mental disability may have self-injurious tendencies. Keeping a watch on such a child will reduce the chances of them hurting themselves or others; and consequently, improve their lifespan. Proper supervision will also make it easier to notice health problems that may turn out to be fatal. Getting specialized care is one of the options that parents consider when looking after a child with CdLS. Monitoring growth and taking a child for testing will also help with management of the syndrome and improve life expectancy.
The life expectancy of a person with CdLS will not only depend on the management of the condition, but the preparations made for various stages in life. For example, a patient can learn skills such as washing to enable them to enjoy some level of independence. A patient with communication and speech impartment can get therapy to help them communicate through different means such as sign language. Such skills will make it less complicated for a CdLS sufferer to live a longer life, thereby, increasing the life expectancy.
Various treatments options can increase the life expectancy of an individual with CdLS. After diagnosis, a specialist must conduct tests to learn the impact of the syndrome in the body. A doctor must answer certain questions such as- is the heart affected? Are there intestinal obstructions? Is there a threat of respiratory failure? Understanding all the necessary parameters will enable a specialist to recommend the best treatment and managed for CdLS. Some patients may undergo surgical procedures to correct defects in the extremities. A doctor will provide the appropriate treatment for hearing loss, seizure, intestinal obstructions, cardiac abnormalities, and hearing loss if they are present. Parents and other family members can make sure that a child with CdLS follows the recommended treatment regimen to improve their quality of life and their life expectancy.