Cornelia de Lange syndrome is a developmental disorder caused by a genetic mutation. The condition can affect appearance, the skeletal system, cognition, and behavior and is usually diagnosed in infancy or childhood. Treatment of the syndrome includes adaptive occupational and physical therapies.

National Institutes of Health: Genetics Home Reference

Cornelia de Lange Syndrome Foundation, Inc.

National Institues of Health: Genetic and Rare Diseases Information Center

American Association of Intellectual and Developmental Disabilities

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cornelia de lange syndrome

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<div class="" data-block="true" data-editor="92tae" data-offset-key="71nrk-0-0">
<div class="public-DraftStyleDefault-block public-DraftStyleDefault-ltr" data-offset-key="71nrk-0-0">
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<div class="public-DraftStyleDefault-block public-DraftStyleDefault-ltr" data-offset-key="3qv9j-0-0"><span data-offset-key="3qv9j-0-0"><span data-text="true">Genetics, combined with a person's environment and experiences influence their development and behavior. You may have heard of the age-old "nature versus nurture" debate. Scientists study how much of what makes us "us" is genetic.</span></span></div>
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<div class="public-DraftStyleDefault-block public-DraftStyleDefault-ltr" data-offset-key="da6p3-0-0"><span data-offset-key="da6p3-0-0"><span data-text="true">Humans knew for ages that living things inherited characteristics from their parents. Because of these observations, they used "selective breeding" to improve plants and animals.</span></span></div>
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<div class="public-DraftStyleDefault-block public-DraftStyleDefault-ltr" data-offset-key="6m3l8-0-0"><span data-offset-key="6m3l8-0-0"><span data-text="true">Genetic disorders are a problem caused by abnormalities in the genes. Some genetic disorders are hereditary. This means we are more susceptible to them because of our family history. Other disorders are due to mutations in our DNA. DNA mutations are part of evolution, but sometimes they can cause abnormalities.</span></span></div>
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<div class="public-DraftStyleDefault-block public-DraftStyleDefault-ltr" data-offset-key="ecfvk-0-0"><span data-offset-key="ecfvk-0-0"><span data-text="true">Some disorders are common like Familial Hypercholesterolemia, and some are rarer like Hemophilia.</span></span></div>
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Conditions

"Condition" is a general term for particular abnormal diseases that negatively affect a part or all of the body. Conditions are not due to any external injury. Therefore, a broken bone does not classify as a condition, whereas Herpes, OCD, Shingles, and Ulcers do.

Medical conditions are classified by specific symptoms and signs. While each person's experiences can vary, there are consistent signs and symptoms that doctors will look for when diagnosing their patients. We always recommend that people seek a professional diagnosis. Afterward, supplement medical advice and opinion with accurate and easy to read information.

Most people only spend an average of a couple minutes with their doctor during a checkup. Oftentimes patients don't receive the fullest explanation of their diagnosis. Easily search through the vast amount of articles that Facty Health offers for ones that address your specific needs. From there, allow us to help you with those unanswered questions.

What is Cornelia de Lange Syndrome?

2. Physical Features

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