Cornelia de Lange Syndrome (CdLS)

What is Cornelia de Lange syndrome (CdLS)?

Cornelia de Lange syndrome (CdLS) is a rare congenital disorder that is characterized by a series of physical developmental delays, and as a result, craniofacial abnormalities. Additional cognitive and medical challenges are also common in the condition. CdLS affects all genders equally and is seen in all races and ethnic backgrounds.

What causes Cornelia de Lange syndrome (CdLS)?

CdLS is caused by mutations in one of five genes (though more may be discovered in the future): the NIPBL gene on chromosome 5, the SMC1A gene on the X chromosome, the SMC3 gene on chromosome 10, the Rad21 gene on chromosome 8, or the HDAC8 gene on the X chromosome. These mutations are X-linked and autosomal dominant, though most affected individuals have this gene as a result of a spontaneous gene mutation.

What are the symptoms of Cornelia de Lange syndrome (CdLS)?

The following symptoms are characteristic in individuals who have CdLS:

• Growth delays, including feeding, chewing, and swallowing difficulties and failure to thrive
• Distinctive facial features, such as an abnormally small head, a short, thick neck, a low hairline, upturned nose, arched eyebrows that grow together, and excessive hair growth
• Malformations of the hands, feet, arms, and/or legs and delayed bone age
• Intellectual disability and behavioral problems, such as biting, hitting themselves, etc.
• Developmental delays in hearing and speech
• Cardiac, gastrointestinal, and eye abnormalities

How is Cornelia de Lange syndrome (CdLS) diagnosed?

CdLS children are often diagnosed clinically after birth or in childhood after a thorough clinical evaluation and an identification of the characteristic physical findings in the condition, specifically, the distinctive facial features, growth retardation, and intellectual disability seen in the disease. Diagnosis of CdLS may be difficult if the patient has only mild symptoms, so molecular genetic testing can confirm a suspected diagnosis.

What are the available treatments for Cornelia de Lange syndrome (CdLS)?

Unfortunately, there is currently no cure for CdLS, so treatment is symptomatic and supportive. Surgery may be performed to help correct some of the physical or cardiac defects in patients, but these procedures are dependent on the severity and location of the abnormalities. Orthopedic techniques can also be used to help treat limb deformities, and hearing aids can alleviate hearing problems in patients. Other complications associated with CdLS can be treated as they come, using traditional therapy measures. Special education, vocational training, speech therapy, and other social services are also very beneficial.

Where can I find more information on Cornelia de Lange syndrome (CdLS)?

• National Organization for Rare Disorders (NORD)
• Cornelia de Lange Syndrome Foundation, Inc.
• U.S. National Library of Medicine