Cornelia de Lange is a syndrome defined as a genetic birth defect and effects 1 in every 10,000 births. A genetic mutation of gene has been identified as the cause although research and testing continue. There is no cure and treatment is based on each individual’s severity of the syndrome. The classic signs are long eyelashes, eyebrows that meet in the middle, low ear placement, and missing fingers or arms. A large amount of those diagnosed with Cornelia de Lange Syndrome also have slowed physical and cognitive development, with approximately 60% exhibiting self-injurious behavior. CORNELIA DE LANGE
Cornelia de Lange So far the pregnancy has been a wonderful experience. Mild morning sickness, very little weight…show more content… The exam completes and the obstetrician enters the room with a small smile along with concern showing in her eyes. Long eyelashes that are visible in an ultrasound have been linked to a genetic condition known as, Cornelia de Lange. While there are many more classic characteristics, that will be discussed later in this paper, this one feature along with the baby’s small size has the doctor concerned and is cause enough to recommend genetic testing for an exact diagnosis.
CORNELIA DE LANGE Diagnosis for Cornelia de Lange syndrome (CdLs) consists of genetic testing, as well as findings made from physical and developmental observations. As with most syndromes, CdLs has a range from mild to severe. There are classic signs like small size, long eyelashes, eyebrows that meet in the middle, and missing fingers or arms. Other children are so mildly affected, the condition goes unnoticed and undiagnosed. Many individuals diagnosed with CdLs have a majority of physical, medical, and developmental disabilities. Once the diagnosis is confirmed, a battery of tests will follow. With the results, a better picture of needed treatments, education, and useful resources can be provided. Educating families and caregivers has been shown to increase the quality of life for the individuals diagnosed with CdLs. Providing information as to