> Cornelia de Lange Syndrome

• Symptoms & Characteristics
• Treatment
• How Common Is It?
• Genetics & Inheritance
• Genetic Testing
• Support & More Information
• Alternative Names

Last Reviewed May 29, 2009

Symptoms & Characteristics

Cornelia de Lange syndrome is a genetic condition that affects the development of various parts of the body. Common characteristics may include:

• growth delay (before and after birth)

• mental retardation/developmental delay

• distinctive facial features

• thin, arched eyebrows

• long eyelashes

• small, widely spaced teeth

• small, upturned nose

• ear abnormalities

• small head size (microcephaly)

• hand and arm defects

• hearing loss

• excessive body hair (hirsuitism)

• digestive problems

• autism

• seizures

• heart defects

• eye abnormalities

• skeletal abnormalities

• genital abnormalities

The features and symptoms of this disorder vary widely among affected individuals and range from relatively mild to severe.

Treatment

There is no cure for Cornelia de Lange syndrome. However, early diagnosis, routine surveillance and treatment can help to manage some of the symptoms.

How Common Is It?

Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns.

Genetics & Inheritance

Mutations in the NIPBL, SMC1A, and SMC3 genes cause Cornelia de Lange syndrome. Researchers are currently looking for additional changes in the NIPBL, SMC1A, and SMC3 genes, as well as mutations in other genes, that may be responsible for this condition.

• Mutations in the NIPBL gene have been identified in about half of all cases of Cornelia de Lange syndrome.

• Mutations in the SMC1A gene appear to be a less common cause of Cornelia de Lange syndrome. Although individuals with mutations in this gene have many of the major features of the condition, the signs and symptoms tend to be milder than those seen with NIPBL mutations.

• Rare cases of Cornelia de Lange syndrome are caused by mutations in the SMC3 gene. Like mutations in the SMC1A gene, SMC3 mutations tend to cause a relatively mild form of the condition.

When Cornelia de Lange syndrome is caused by mutations in the NIPBL or SMC3 gene, this condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the condition in their family.

Cases of Cornelia de Lange syndrome caused by SMC1A mutations have an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. Studies of X-linked Cornelia de Lange syndrome indicate that one copy of the altered gene in each cell may be sufficient to cause the condition. Unlike most X-linked conditions, in which males are more frequently affected or experience more severe symptoms than females, X-linked Cornelia de Lange syndrome appears to affect males and females similarly. Most cases result from new mutations in the SMC1A gene and occur in people with no history of the condition in their family.

Genetic Testing

Clinical genetic testing for Cornelia de Lange syndrome may be available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.

• A medical geneticist can also be found at the American College of Medical Genetics website.

• A genetic counselor can also be found at the National Society of Genetic Counselors website.

Support & More Information

More information can be found at:

• Genetics Home Reference

Support can be found at:

• Cornelia de Lange syndrome Foundation, Inc.

Alternative Names

• BDLS
• Brachmann-De Lange Syndrome
• CDLS
• De Lange Syndrome