Cornelia de Lange syndrome

Cornelia de Lange syndrome is a rare condition that affects growth and development. It is characterized by low birth weight, delayed growth, intellectual disability, behavioral problems, and a distinctive facial appearance such as thin, arched eyebrows, low set ears, small teeth, and a small nose. These features can vary in severity among people with the condition. Most cases are linked to specific genetic mutations, and while many people with this syndrome have a greater impact on their overall development, there is a range in the way the condition presents. Understanding these characteristics helps in recognizing the syndrome and guiding further evaluation.

Common signs of Cornelia de Lange syndrome include low birth weight, slower growth, intellectual disabilities, and behavioral challenges. The facial features, such as thin and arched eyebrows, low set ears, small teeth, and a small nose, are also a significant part of the syndrome’s presentation.

The condition is mostly caused by mutations in the NIPBL gene. In less severe cases, mutations in the SMC1A and SMC3 genes have been found. These genetic changes affect how the body develops and can lead to the various physical and developmental challenges seen in the syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.