Cornelia de Lange syndrome: causes, symptoms and treatment

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

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

    What is Cornelia de Lange syndrome?

    Cornelia de Lange syndrome (SCdL) it is a congenital multiple malformation disease characterized by being hereditary dominant and cause impaired development of the child.

    this syndrome it manifests as a very characteristic facial phenotype, A delay in prenatal and postnatal growth and due to a disorder of intellectual development or cognitive deficits which may present to varying degrees.

    Likewise, many times people suffering from Cornelia de Lange syndrome also suffer from some kind of abnormality or deformity in their upper limbs.

    Three types of phenotypes can be distinguished according to the intensity of the symptoms: severe, moderate and mild phenotype.

    According to different research, the prevalence of this syndrome is one affected person in 45,000 to 62,000 births. However, most cases of Cornelia de Lange occur in families with dominant inheritance patterns.

    Finally, making an estimate of life expectancy is a very complicated task because it can vary from one person to another depending on the severity of the syndrome and the associated pathologies.

    traditionally the main cause of death was linked to a misdiagnosis of the disease and associated pathologies. However, thanks to medical advancements, both in diagnosis and in treatment, they have managed to change that.

    Clinical features

    In the distinctive physical features of this disease we find a lower than normal birth weight, less than 2.2 kg. about. As well as a development of slow growth, small stature and the presence of microcephaly.

    As for the facial phenotype, it usually has plain eyebrows. and with pronounced angles, a 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 joints.
    • esophageal reflux.
    • Seizures.

    • Cardiac abnormalities.
    • Fissure of the palate.
    • Intestinal abnormalities.
    • Loss of hearing and vision.

    In terms of behavioral symptoms, children with Cornelia de Lange often exhibit self-injurious behaviors such as biting their fingers, lips, and upper limbs.

    the 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 disease.

    The main genetic alteration that causes 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 it is already responsible for encoding the delangin protein. This protein is responsible for controlling the activity of chromosomes during cell division.

    Likewise, the delangin protein is normally involved in the tasks of other genes responsible for the development of the fetus, in particular the genes responsible for the development of tissues that will later form the limbs and the face.


      There is still no established protocol for the diagnosis of Cornelia de Lange syndrome and clinical data should be used. However, the clarity and visibility of the symptoms make their diagnosis relatively easy.

      By studying the characteristic features of the face, assessing intellectual performance and measuring the growth of the egg-laying, an effective diagnosis of this syndrome can be made.

      Although this diagnosis is relatively straightforward, there are a number of difficulties when it comes to conditions with a mild phenotype. The phenotypes that involve difficulties at the time of its diagnosis are:

      soft phenotype

      They are usually not diagnosed until after the neonatal period. In these cases, no abnormalities are shown in the limbs and the general phenotype and intelligence are not changed much.

      Moderate or variable phenotype

      In these cases, the great variability of characteristics and expressions makes diagnosis difficult.

      By studying the characteristic features of the face, the evaluation of intellectual performance and measurement of natural pond growth can make an effective diagnosis of this syndrome.

      Due to these difficulties, the diagnosis in the prenatal period is plausible only in siblings of those affected by the disease, when there is some kind of anomaly in family members, in case of hydrocephalus or if there is a delay in intrauterine development evident on ultrasound.

      What are the options or needs of people with SDdL?

      As mentioned above, the degree of intellectual development of people with Cornelia de Lange may vary from person to person, each of them will have the capacity to flourish according to their personal possibilities and help and support provided by your family and social environment.

      Unfortunately, language and communication in general tend to be severely affected. Even in the mildest cases, the development 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 atmosphere, eliminating any element that may be disturbing, distressing or threatening to the child. This way tendencies to hyperactivity, irritability and self-aggressive behavior will be avoided.

      The main goal of interacting or coexisting with children with Cornelia de Lange syndrome is to perceive and feel the conditions of the child, without forcing him to perceive things as we perceive them.

      Leave a Comment