Cornelia de Lange Syndrome (CdLS) is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made. Rather it depends on the presence of a combination of characteristics. As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight, delayed growth and small stature, and small head size. Typical facial features include thin eyebrows which frequently meet at midline, long eyelashes, short upturned nose, thin downturned mouth, small hands and feet, and incurved fifth fingers. Some medical concerns include: gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties and developmental and growth delay. Limb abnormalities are also found.

At present, the cause is not clearly known, although it is suspected that a gene -possibly located on chromosome number three- may be responsible.

A thorough medical evaluation including a history and physical exam, family history, lab tests, x-rays and chromosome analysis is usually done before a diagnosis is made. Since there is no specific test for CdLS this is best accomplished through a referral to a genetics specialist or clinic.

CdLS Foundation

CdLS Online Parent Support Group (CdLS OPSG)

CdLS OPSG Member List





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