CdLS Symptoms and Characteristics

Cornelia de Lange Syndrome (CdLS) presents itself uniquely in each individual due to its variety of causes. Symptoms may not be present in each person, and range in severity. 

 

Symptoms and Characteristics may include:

  • Medical Symptoms (or comorbidities)

    • Low birth weight*

    • Slow growth rate​*

      • Short Stature​*

    • Hearing loss

    • Gastroesophageal Reflux Disease (GERD)

    • Cleft palate

    • Seizures 

    • Heart defects

      • Including but not limited to heart murmurs​

    • Vision issues

    • Behavioral issues

      • These may be related to or resemble Autism Spectrum Disorder​​​

  • Physical (observable) Characteristics

    • Excessive body hair (Hirsutism)

    • Widely spaced teeth

    • ​Low set ears*

    • Long eyelashes*

    • Low, down-turned mouth*

    • Short, up-turned nose*

    • Skeletal abnormalities*

      • Small head size*

      • Limb differences* (meaning limbs may be missing, or differing in size or shape​​

*characteristics common to NIPBL gene mutations

“Characteristics of CdLS.” Cornelia De Lange Syndrome (CdLS) Foundation, Inc., www.cdlsusa.org/characteristics-of-cdls/.

“Cornelia de Lange Syndrome.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services,         

              rarediseases.info.nih.gov/diseases/10109/cornelia-de-lange-syndrome.