Cornelia de Lange Syndrome (CdLS) is an extremely rare congenital disorder and named after the Dutch physician, Cornelia de Lange, who first described the condition in 1933. It is also known as Bushy Syndrome, Brachmann-de Lange Syndrome or Amsterdam Dwarfism. Exact numbers of people affected by the syndrome are hard to quantify but estimates place occurrence at approximately 1 in 10,000 births.
CdLS is on occasion not diagnosed at birth and discovery of the condition is usually based on medical signs being observed in the infant. Laboratory tests are available that will give a clearer diagnosis. During pregnancy high-resolution ultrasound is an option to attempt identification of slow development or abnormal limb growth in the child.
Research has identified a number of genes thought to cause the syndrome when mutations occur but there is still work required to gain a comprehensive understanding of the causal factors. With most cases being caused by genetic mutations that occur spontaneously it is rare that CdLS is hereditary, although research has indicated that a person with the syndrome can pass it to their child.
Many health practitioners regard CdlS as being often under or misdiagnosed. It is important to note that a child with the syndrome may only exhibit certain associated symptoms from those identified. It is also possible for children to have many similar symptoms but not the condition itself. The following signs are the more typical characteristics of the syndrome used in diagnosis:
Treatment of people with CdLS is usually inter-disciplinary with speech, occupational and physical therapists all playing a key role. Children with the condition will develop at varying rates but with a slower than average progression in cognitive and physical areas. Speech is commonly delayed even in mild cases.
Life expectancy is generally well into adulthood for most people with CdLS but is largely dependent on the level of care available to the individual and their general health. Due to some of the physical natures of the condition a person with the syndrome will be more susceptible to accidents than the average population.
Further health complications relating to heart defects can have an effect on life expectancy but early evaluation and intervention can help against this. Gastroesophageal reflux and bowel abnormalities can also be factors that may shorten life span if left untreated.
Advances in medical care and therapies has had significant effects on not only improving quality of life of those with CdLS but also in increasing overall life expectancy. With early diagnosis and careful clinical care there are many options available to assist people with the syndrome.