Cornelia de Lange syndrome - causes, symptoms and treatment

This congenital disorder has effects on intellectual development and body shape.

Genetic mutations are responsible for generating an immense amount of changes or variations among people. However, when these alterations occur in a number of specific genes, they can lead to the development of congenital diseases or syndromes.

One of these conditions is the Cornelia de Lange syndromewhich is expressed through a series of physical and mental characteristics. This article will describe its manifestations, causes and diagnosis.

What is Cornelia de Lange syndrome?

Cornelia de Lange syndrome (CLS) is a multiple malformation disease. is a congenital multiple congenital malformation disease characterized by inherited dominant form and for causing an alteration in the child's development.

This syndrome is manifested by a very characteristic facial phenotype, prenatal and postnatal growth delayThis syndrome is manifested by a very characteristic facial phenotype, prenatal and postnatal growth retardation and intellectual developmental disorder or cognitive deficits that may occur to varying degrees.

Also, on many occasions people suffering from Cornelia de Lange syndrome also suffer from 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 the different researches the prevalence of this syndrome is of one affected person out of 45,000 to 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 the main cause of death was related to misdiagnosis of the disease and associated pathologies. and associated pathologies. However, thanks to medical advances, both in diagnosis and treatment, this has changed.

Clinical features

The distinctive physical features of this disease include a lower than usual birth weight, being below approximately 2.2 kg.. approximately. As well as slow growth development, short stature and presence of microcephaly.

Regarding the facial phenotype, this usually presents united eyebrows and with pronounced angles, a nose and with pronounced angles, small nose, large eyelashes and thin lips in the shape of an inverted "V".

Other common signs of Cornelia de Lange syndrome are:

• Hirsutism.
• Small hands and feet.
• Partial fusion of the second and third toes.
• Curved little fingers.
• Esophageal reflux..
• Convulsions.
• Cardiac abnormalities.
• Cleft palate.
• Intestinal abnormalities.
• Hearing and vision loss.

As for behavioral symptomatology, children with Cornelia de Lange often present self-injurious behaviors such as finger, lip and upper extremity biting.

Causes

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 results in Cornelia de Lange 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, mutations are found in the HDAC8 and RAD21 genes.

The NIPBL gene plays an essential role in human development and is responsible for encoding the protein delangin. This protein is one of those responsible for controlling the activity of chromosomes during cell division.

Likewise, the delangin protein mediates the tasks of other genes responsible for the normal development of the fetus, specifically those genes responsible for the development of the tissues that will later form the limbs and face.

Diagnosis

There is still no established protocol for the diagnosis of Cornelia de Lange syndrome, being necessary to resort to clinical data. However, the clarity and visibility of the symptoms make it relatively easy to diagnose..

By studying the characteristic facial features, assessing intellectual performance and measuring pondo-statural growth, an effective diagnosis of this syndrome can be made.

Although this diagnosis is relatively straightforward, there are a number of difficulties when dealing with mild phenotypic conditions. The phenotypes that involve difficulties in diagnosis are:

Mild phenotype.

They are usually not diagnosed until after the neonatal period. In these cases, no limb anomalies are shown and both the general phenotype and the 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.

Through the study of characteristic facial features, the evaluation of intellectual performance and the measurement of pondo-statural growth, an effective diagnosis of this syndrome can be made. and the measurement of postnatal growth, an effective diagnosis of this syndrome can be made.

Because of these difficulties, diagnosis during the prenatal period is only plausible in siblings of individuals affected by the disease, when there is some type of anomaly in family members, in cases of hydrocephalus or in intrauterine developmental delays evident in ultrasound scans.

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 person to another. and the help and support provided by their family and social environment..

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 elements that may be disturbing, distressing or threatening to the child. In this way avoid reinforcing tendencies towards 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.