What is the life expectancy of someone with Cornelia de Lange syndrome?
Life expectancy is relatively normal for people with Cornelia de Lange syndrome and most affected children live well into adulthood. For example, one article mentioned a woman with Cornelia de Lange syndrome who lived to age 61 and an affected man who lived to age 54.
What causes Cornelia de Lange syndrome?
What causes Cornelia de Lange syndrome? Cornelia de Lange syndrome is genetic condition that is caused by mutations in at least five genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A). The severity of the condition can vary greatly depending on the type of mutation and which gene is affected.
How many people in the world have Cornelia de Lange syndrome?
Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns.
Is Cornelia de Lange syndrome a form of dwarfism?
The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange, who described it in 1933. It is often termed Brachmann de Lange syndrome or Bushy syndrome and is also known as Amsterdam dwarfism….
| Cornelia de Lange syndrome | |
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| Specialty | Medical genetics |
Is CdLS hereditary?
CdLS can be inherited as an autosomal dominant condition or an X-linked condition. Most affected individuals have an abnormal gene as a result of a new gene mutation.
Is CdLS fatal?
In a study of 295 individuals with CdLS (81 infants, 117 children and 97 adults; 15 with a confirmed NIPBL variant), the most common causes of death in infants were congenital diaphragmatic hernia (17%) and respiratory problems (13%); in children, mortality was greatest owing to sequelae of congenital heart defects (10 …
Is there a cure for Cornelia de Lange syndrome?
Specific therapies for the treatment of CdLS are symptomatic and supportive. In some children, surgery may be performed to help correct cleft palate, cardiac defects and/or diaphragmatic hernias. Plastic surgery may be helpful in reducing excessive hair.
How rare is CdLS?
CdLS is a very rare disorder that is apparent at birth (congenital). Males and females appear to be affected in equal numbers. It has been estimated that CdLS occurs in approximately one in every 10,000 live births in the United States.