This congenital disorder has effects on intellectual development and body shape.
Genetic mutations are responsible for generating an immense amount of changes or variations between people. However, when these alterations occur in a series of specific genes, they can lead to the appearance of congenital diseases or syndromes.
One of these conditions is Cornelia de Lange syndrome, which is expressed through a series of physical and mental characteristics. In this article its manifestations, causes and diagnosis will be described.
What is Cornelia de Lange syndrome?
Cornelia de Lange syndrome (SCdL) is a congenital multiple malformative disease characterized by being dominant hereditary and by causing an alteration in the child’s development.
This syndrome manifests itself through a very characteristic facial phenotype, a delay in both prenatal and postnatal growth, and by a disorder of intellectual development or cognitive deficits that can present to a variable degree.
Likewise, on many occasions, people who suffer from Cornelia de Lange Syndrome also suffer some type of anomaly or malformation in their upper extremities.
Three types of phenotypes can be distinguished according to the intensity of the symptoms: the severe, the moderate and the mild phenotype.
According to different investigations, the prevalence of this syndrome is one affected person in between 45,000 and 62,000 births. However, most cases of Cornelia de Lange occur in families with dominant inheritance patterns.
Finally, estimating life expectancy is a very complicated task since it can vary from one person to another depending on the severity of the syndrome and associated pathologies.
Traditionally, the main cause of death was related to a misdiagnosis of the disease and associated pathologies. However, thanks to medical advances, both in diagnosis and treatment, they have managed to change this.
Among the distinctive physical features of this disease we find a weight below the usual at birth, being below 2.2 kg. approximately. As well as a slow growth development, a short stature and the presence of microcephaly.
Regarding the facial phenotype, this usually presents close-knit eyebrows with pronounced angles, a small nose, large eyelashes and thin lips in an inverted “V” shape.
Other common signs of Cornelia de Lange syndrome are:
- Small hands and feet.
- Partial fusion of the second and third toes.
- Curved pinkies.
- Esophageal reflux.
- Heart abnormalities.
- Cleft palate.
- Intestinal abnormalities.
- Loss of hearing and sight.
Regarding behavioral symptoms, children with Cornelia de Lange often present self-injurious behaviors such as nibbling on the fingers, lips, and upper limbs.
The causes of Cornelia de Lange syndrome are purely genetic. Within these genetic causes there are two types of mutations that can cause this condition.
The main genetic alteration that Cornelia de Lange has as a consequence is a mutation in the NIPBL gene. However, there are other cases of this syndrome caused by mutations in the SMC1A and SMC3 genes, and to a lesser extent the mutations are found in the HDAC8 and RAD21 genes.
The NIPBL gene plays an essential role in human development as it is responsible for encoding the delangin protein. This protein is one of those in charge of controlling the activity of chromosomes during the division of cells.
Likewise, the langin protein mediates the tasks of other genes responsible for the fetus to develop normally, specifically those genes responsible for the development of the tissues that will later form the limbs and face.
There is still no established protocol for the diagnosis of Cornelia de Lange syndrome, making it necessary to resort to clinical data. However, the clarity and visibility of the symptoms make their diagnosis relatively easy.
An effective diagnosis of this syndrome can be made by studying characteristic facial features, evaluating intellectual performance, and measuring weight gain.
While this diagnosis is relatively straightforward, there are a number of difficulties when it comes to conditions with a mild phenotype. The phenotypes that imply difficulties at the time of diagnosis are:
They are not usually diagnosed until after the neonatal period. In these cases, there are no abnormalities in the extremities and both the general phenotype and intelligence are not very altered.
Moderate or variable phenotype
In these cases, the great variability in both traits and expressions makes diagnosis difficult.
An effective diagnosis of this syndrome can be made by studying characteristic facial features, evaluating intellectual performance, and measuring body growth.
Due to these difficulties, the diagnosis during the prenatal period is only plausible in siblings of people affected by the disease, when there is some type of abnormality in the family members, in cases of hydrocephalus or in intrauterine development delays evident in the ultrasounds.
What options or needs do people with SDdL have?
As mentioned above, the degree of intellectual development of people with Cornelia de Lange may vary from one to another, each of them will have the ability to prosper according to their personal possibilities and the aids and supports provided by their family environment and social.
Unfortunately, both language and communication in general tend to be severely affected. Even in the mildest cases the evolution of these aspects can be seriously compromised.
Due to the needs of children with Cornelia de Lange, it is advisable to provide them with a calm and relaxed environment, eliminating any element that may be disturbing, distressing or threatening to the child. This will avoid reinforcing tendencies to hyperactivity, irritability and self-injurious behaviors.
The main objective when interacting or living with children with Cornelia de Lange syndrome is to perceive and feel through the child’s conditions, without forcing them to perceive things as we perceive them.