Cornelia de Lange Syndrome

Also known as: CDLS, De Lange syndrome.

What is Cornelia de Lange syndrome?

Cornelia de Lange syndrome is a rare genetic disorder than can impact things such as facial features, limbs, and overall physical and intellectual growth. Signs of the disease are typically present at birth and even before.
 

What causes Cornelia de Lange syndrome?

Cornelia de Lange syndrome is caused by a genetic mutation. In most cases, this occurs spontaneously with no family history of the disease.

 

What are the symptoms of Cornelia de Lange syndrome?

Symptoms can range widely and include abnormal facial features, short stature, intellectual disabilities, problems with the hands and arms, hearing loss, heart problems and seizures, among other symptoms.
 

What are Cornelia de Lange syndrome care options?

There is no cure for Cornelia de Lange syndrome. Various types of therapies (speech, physical, occupational) can help people cope with the condition. Surgery may be an option in certain instances.


Reviewed by: Parul B Jayakar, MD

This page was last updated on: 6/21/2019 2:25:04 AM