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Cornelia de Lange Syndrome (CdLS)
Tuesday, 17 June 2003
Thursday, 19 May 2005
Brachmann-de Lange Syndrome


Cornelia de Lange syndrome occurs in about 1 in 10,000 to 1 in 50,000 births. It occurs in all ethnic groups and equally in both males and females.


CdLS is believed to occur in between 1:10,000 and 1:30,000 live births. It occurs equally in both males and females.

Signs and Symptoms

CdLS is characterized by a number of signs and symptoms which Cornelia de Lange syndrome is present at birth and is characterized by a number of signs and symptoms. The following is a list of features that commonly occur, but not every child with CdLS has each symptom. Poor growth starts before birth and children with CdLS are often short. The head and jaw may be small. The ears may be positioned low on the head and there may be hearing problems. The eyebrows usually meet in the middle, the eyelashes can be long and curly, and there may be vision problems. The nose may be upturned and the bridge of the nose is low. The upper lip may be thin and the corners of the mouth turn downward. There may be a cleft lip or cleft palate. Teeth do not come in on time and they may be widely spaced. The neck can be short. There may be heart or diaphragm problems. Children may be prone to getting pneumonia (lung infections). They may have reflux or vomiting. Males may have small genitalia. The limbs may be shortened and there may be missing or webbed fingers or toes. They may have excessive hair growth. The cry in infancy sounds low-pitched or growl-like. Individuals have stiff muscle tone and mental retardation.

Possible Causes

Some cases of Cornelia de Lange syndrome are caused by changes (mutations) in the NIPBL gene. This gene is located on chromosome 5. There are some cases where the cause is unknown. CdLS is an autosomal dominant disorder.


Diagnosis is usually based on developmental delay and typical physical characteristics. The diagnosis may be confirmed with genetic testing for the NIPBL gene.


There is no cure for Cornelia de Lange syndrome. Treatment depends on the child’s symptoms. Growth and nutrition can be improved by using a feeding tube that is inserted into the stomach through the abdominal wall (gastrostomy or G tube). Treating reflux or vomiting with medications or surgery also helps with growth. A cleft lip or palate can be surgically repaired. Speech therapy should be started early and some children learn to use sign language to communicate. Physical therapy can help with muscle tone and development. Special education classes should be geared toward maximizing the child’s potential. If there are hearing or vision problems, the child may be helped with hearing aids or glasses, respectively. Heart problems should be screened


The prognosis for children with Cornelia de Lange syndrome is highly variable. Most children with mild physical involvement and proper medical treatment are expected to have a normal life expectancy. Some children will require high levels of care throughout their lives and need ongoing support and therapies.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


CdLS-USA Foundation
In excellent resource for information about the diagnosis, family issues, treatment, and prognosis. This site also provides a member directory and online support group.

Facing the Challenges: A Guide to Cornelia de Lange Syndrome
A free on-line book about CdLS that is available from the CdLS-USA Foundation. The website requires Adobe Acrobat for viewing.

CdLS World
An international support group for the CdLS community.

Google Search for Cornelia de Lange Syndrome (CdLS)

References and Sources

Behrman: Nelson Textbook of Pediatrics, 16th ed., “Syndromes of Multiple Developmental Abnormalities” p. 1922t,, 2000. Russell KL, Ming JE, Patel K, et al. Dominant Paternal Transmission of Cornelia de Lange Syndrome: A New Case and Review of 25 Previously Reported Familial Occurrences. Am J Med Genet. 2001;104:267-276. McKusick V. OMIM. Cornelia de Lange Syndrome.