Definition:

Cornelia De Lange Syndrome (CdLS) is a congenital genetic disorder characterized by a range of physical, cognitive, and developmental abnormalities. It is named after the Dutch pediatrician Cornelia de Lange, who first described the syndrome in 1933. CdLS affects multiple systems in the body and usually presents with distinct facial features, growth and cognitive delays, limb abnormalities, and organ system involvement.

Subtypes:

There are several subtypes of CdLS, including classic CdLS, which is the most common form, as well as variants such as mild CdLS and infantile multisystem CdLS. Each subtype has its own unique features and severity.

Causes:

CdLS is primarily caused by mutations in certain genes, such as NIPBL, SMC1A, SMC3, RAD21, and HDAC8, which play a role in regulating the development of various structures in the body. These mutations disrupt the normal functioning of these genes, leading to the characteristic features and symptoms of the syndrome.

Signs and Symptoms:

Common signs and symptoms of CdLS include distinctive facial characteristics (such as thin eyebrows, long eyelashes, and a small upturned nose), slow growth and short stature, intellectual disability, speech delay, gastrointestinal problems, limb abnormalities (such as small hands and feet or missing fingers), and heart defects.

Diagnosis:

The diagnosis of CdLS is typically based on the presence of characteristic physical features and developmental delays. Genetic testing may also be performed to identify mutations in the associated genes. A thorough evaluation by a medical geneticist and other specialists is essential for an accurate diagnosis.

Treatment and Management:

There is no cure for CdLS, so treatment primarily focuses on managing the symptoms and improving the quality of life. This often involves a multidisciplinary approach, including early intervention programs, physical therapy, speech therapy, educational support, and regular medical monitoring to address the specific needs of each individual.

Prognosis:

The outlook for individuals with CdLS varies depending on the severity of the condition and the presence of associated complications. While CdLS can significantly impact a person’s development and daily functioning, with appropriate support and care, many individuals with CdLS can lead fulfilling lives and achieve significant milestones.