THE GENETICS OF CdLS

Genetic testing is often used to identify or confirm a CdLS diagnosis. To date there are seven gene variants that can cause CdLS.

In the future, researchers may identify additional gene changes that cause CdLS. Research helps us better understand why and how CdLS occurs.

WHAT IS CORNELIA de LANGE SYNDROME (CdLS)?

CdLS is a rare genetic spectrum disorder present from birth. This means that during conception a gene changed or mutated. Most of the time, the gene change occurs spontaneously and has not been passed down from either parent. On occasion, the gene change can be inherited when parents who do not have CdLS have the variant in some of their egg or sperm cells.

CdLS can cause a broad range of potential physical, cognitive, and medical challenges. Physical features and medical conditions occur along a continuum with varying degrees of severity. No two individuals with CdLS are the same. It is estimated that CdLS occurs in 1 in 10,000 live births, affecting all races and genders equally. CdLS can remain undiagnosed because it presents in different forms and severity.

MANAGEMENT GUIDELINES

Identifying concerns and initiating treatment to address medical and developmental issues are vital. The CdLS Management Guidelines outline necessary evaluations, and tests, recommended at different ages and intervals.

MOST COMMONLY AFFECTED BY CdLS

FINDINGS YOU MAY SEE

Cardiac / Cardiovascular

• Congenital heart defects

Cognition and Behavior

• Intellectual or learning disability (any degree)
• Autism spectrum disorder
• ADHD, Anxiety
• Self-injurious behavior
• Behavioral issues can escalate in response to discomfort from a medical issue

Digestive System

• Gastrointestinal reflux (GERD): at least 85% of those with CdLS experience some type of reflux
• Constipation, decreased bowel motility
• Chance of bowel obstruction

Genitourinary

• Kidney abnormalities
• Irregular menstrual periods in females
• Undescended testicles in males
• Other male genitalia abnormalities
• Early prostate enlargement in males

Head and Facial Features

• Decreased head size
• Thick eyebrows that meet in the middle
• Long eyelashes
• Upturned nose
• Long smooth philtrum (the groove between the top of the lip and the bottom of the nose)
• Downturned corners of the mouth
• Small, recessed jaw, high, or cleft palate that can impact feeding

Neurological

• Seizures can occur

Skeletal System

• Short stature
• Smaller than average hands and feet
• Limb differences,
• Hip abnormalities
• Scoliosis

Vision problems /Hearing Loss

• Hearing Loss
• Multiple ear infections
• Visual impairment, often severe nearsightedness