Cornelia De Lange syndrome

What is Cornelia De Lange syndrome?

Cornelia De Lange syndrome is a genetic disorder with a widely varied phenotype. This means symptoms vary significantly between individuals both in terms of their presentation and their severity. Most patients share some facial characteristics as well as short stature and/or growth abnormality.

The syndrome is also often referred to as Brachman De Lange, CDLS, or De Lange syndrome.

What gene changes cause Cornelia De Lange syndrome?

Cornelia De Lange syndrome occurs in 60% of cases when there is a mutation in the NIPBL gene. In just 10% of cases, the mutation occurs on the SMC1A, SMC3, HDAC8, or RAD21 genes. 30% of cases have an unknown cause.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Cornelia De Lange syndrome?

The main symptoms of Cornelia De Lange syndrome may vary between individuals and may also vary in the extent of their severity.

Typical facial characteristics of the syndrome include a concave nasal bridge, small nose, thick and long eyebrows, a thin upper lip, and a downward mouth. Short stature is also typical of the syndrome.

Other possible symptoms may include growth and developmental delay. Intellectual disability, and disabilities relating especially to behavior and social conditions. Autistic tendencies are common for some individuals.

Other health conditions may include skeletal abnormalities, congenital heart defects, gastrointestinal problems, seizures, a cleft palate, and excess hair growth. Genital abnormalities, myopia and hearing loss, and missing digits on the hand and feet may also present as symptoms.

How does someone get tested for Cornelia De Lange syndrome?

The initial testing for Cornelia de Lange syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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