Cornelia de Lange Syndrome Life Expectancy

"Syndrome" is a medical term used to refer to conditions that have a collection of symptoms and signs. Cornelia de Lange therefore, is a syndrome of multiple incorrigible and innate abnormalities with mental retardation. The features of the condition are as varied as the patients themselves. The disease varies from mild (type 2) to severe (type 1).

Most often than not, the disease cannot be traced back to a person in the family and is therefore thought to be an intermittent, impulsive genetic mutation of which only three causative genes have been found. It is usually characterized by slow growth pre and post natal, mental retardation that is usually mild to severe and skeletal abnormalities that affect the arms and hands. The causes however, remain largely unknown.

Facial abnormalities that may also be observable include arched eyebrows that often grow as one in the middle, small widely spaced teeth, a tiny upturned nose and long eyelashes. The Cornelia de Lange syndrome life expectancy may vary but it is estimated that 1 in 10,000 to 30,000 newborns have the syndrome.

Most children with the condition do live well into adulthood but there are a number of life threatening conditions that could affect the life expectancy. Some of these include untreated gastro esophageal reflux, heart defects and bowel abnormalities.

In severe cases of the condition, the newborn has a distinctive facial appearance that does not change much over the child's life but in mild cases, the facial features may not be so obvious at birth but they do become enhanced over the first two or three years of the child's life. By the time this child gets to adulthood however, the characteristic face is lost.

The three genes resulting to the de Lange syndrome are: NIPBL, SMC1A and SMC3. None of these though specifically dictates the syndrome's life expectancy to a specific time frame. Of the affected newborns with the condition though, most of those with severe limb anomalies are boys.

There are a number of things that are affected in such a child's life. These include; behavioral problems, retarded growth and skeletal abnormalities. Some of the notable behavioral problems include aggression, uneven sleeping patterns, hyperactivity, self injury (usually common in teens) and social apprehension.

Depending on the care and attention given, especially to teens, the Cornelia de Lange syndrome life expectancy is unpredictable. This is because they have diminished response to pain and could end up self inflicting injuries some of which could be fatal.

Before a child is born, a mother can have a high resolution ultrasound test performed and this could help detect detectable limb abnormalities as well as poor embrionario growth.

Not be to a cause of alarm though, hyperactivity in babies could also be caused by a rather common condition known as Gastro oesophageal reflux with one out of every two babies in the UK having the condition.

Another common thing between the two conditions is that they both could lead to Respiratory problems with the gastro oesophageal reflux causing more of the problems and even fatalities in extreme cases.