Characteristics of Cornelia de Lange Syndrome

Cornelia de Lange Syndrome (CdLS) is a genetic disorder that is present from birth and is usually not inherited. It is due to an acquired change (mutation) in one of the seven genes that are important for development at or immediately after conception. Signs of CdLS can be seen from birth or even before birth, especially if it is severely affected, but may not be diagnosed until the child is older when it is milder.

This leads to a variety of potential physical, cognitive, and medical challenges that are now known as CdLS spectrum disorders. There are many organizations that support CdLS sufferers. If you wish to make donations, visit

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CdLS does not discriminate – it affects both genders equally and is seen across all races and ethnicities. The incidence of CdLS is estimated at 1 in 10,000 live births, but because it varies widely, it cannot be diagnosed.

It typically affects growth, with a smaller body and head size; skeletal system, with smaller hands and feet or missing forearms and fingers; development, with delayed development, intellectual disability or learning disabilities; behavior, with ADHD, anxiety or autistic features; and internal body organs including the GI, cardiac, genitourinary and neurologic body systems. 

A gene mutation test will be positive in about 80% of people with CdLS, but clinical evaluation by a geneticist should be diagnostic. Like many other syndromes, people with CdLS are very similar. Characteristic features of the face are thin eyebrows that meet in the middle, long eyelashes, a short hooked nose, and narrow lips.