Cornelia de Lange syndrome
What is Cornelia de Lange syndrome?
Cornelia de Lange syndrome (CdLS) is a genetic disorder that affects many parts of the body. The features that are more commonly found as part of the condition include:
- Intellectual disability
- Developmental delays
- Slow growth that leads to people with CdLS being smaller than their peers
- Specific facial features such as eyebrows that connect to one another (known as synophrys), long eyelashes, small and widely spaced teeth, and a short, upturned nose
- Gastroesophageal Reflux Disease (GERD)
- Behavioral issues
- Excess hair on parts of the body including face, ears, back, and arms (known as hirsutism)
- Heart defect
Other less common features of Cornelia de Lange syndrome may include:
- Eye disorders such as inflammation of the eyelid, absent tear ducts, and nearsightedness
- Hearing loss
- Feeding difficulties
- Heart defects
- Bowel abnormalities and digestion issues
- Undescended testes
However, different people with CdLS may have different features and more severe health problems than one another. Individuals with Cornelia de Lange syndrome are often diagnosed by a medical geneticist. If you are interested in a consultation with a medical geneticist, your primary care physician may be able to provide a referral to a medical geneticist in your area, or you can search the National Society of Genetic Counselors "Find a Genetic Counselor" directory to help locate genetic services in the United States and Canada.
- GeneReview on Cornelia de Lange syndrome
- Kline, et al. 2007. Cornelia de Lange Syndrome: Clinical Review, Diagnostic and Scoring Systems, and Anticipatory Guidance. Amer J Med Genet 1A 143A: 1287-1296.
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Are there other names for Cornelia de Lange syndrome?
Cornelia de Lange syndrome may also be called:
- Brachmann-de Lange syndrome
How common is Cornelia de Lange syndrome?
Cornelia de Lange syndrome is thought to occur in around 1 in 10,000 to 1 in 30,000 newborns. It is difficult to determine the true prevalence of CdLS, as it is likely that there are many individuals with milder features of CdLS that have not been diagnosed. As of 2019, the CdLS Foundation reports serving around 2800 individuals with CdLS in the United States.
What is the usual abbreviation for Cornelia de Lange syndrome?
Cornelia de Lange syndrome is usually abbreviated as CdLS.