Cornelia de Lange syndrome

Overview

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
  • Seizures
  • 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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/cornelia-de-lange-syndrome/overview/1784 • DATE UPDATED: 2016-07-04

References

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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