My Daughter Harley Anne Has CDLS
Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, but not always diagnosed at birth. It causes a range of physical, cognitive and medical challenges and affects both genders equally. CdLS does not discriminate—it’s seen in all races and ethnic backgrounds. The occurrence of CdLS is estimated to be 1 in 10,000 live births.
Learning that your child may have CdLS may be hard to hear, but by contacting the CdLS Foundation, you’re taking an important step. Foundation staff is available by phone or email to offer support, connect you with other families, and provide information from medical, educational and behavioral experts.
Where should I go from here?
Contact the Foundation to request our free packet, Starting the Journey: Information and Support for New Parents. This packet of basic information helps you and your child—no matter how he or she is—receive the best start possible. It addresses topics related to growth and feeding, education, genetic information, and much more.
The CdLS Foundation provides families, professionals and others with information about the syndrome. Please use the links on the left to learn more about the syndrome.
Characteristics of CdLS
As with many other syndromes, individuals with CdLS strongly resemble one another. Typical facial features include thin eyebrows that meet in the middle, long eyelashes, a short upturned nose, and thin downturned lips.
Other characteristics include low birth weight (often under five pounds), slow growth, small stature, and small head size. Other features may include excessive body hair and small hands and feet. Common medical issues include gastro- esophageal reflux disease, heart defects, seizures, feeding difficulties, vision problems, and hearing loss. Limb differences, including missing arms, forearms or fingers, are seen in about 25 percent of individuals with CdLS. Behavioral and communication issues and developmental delays often exist.
Major Characteristics of CdLS
CdLS is not a “one size fits all” condition. An individual may have many of the following traits, or only a select few. Geneticists establish the diagnosis after evaluating all the criteria.
Birth Weight, Growth and Head Size
The average birth weight for children with CdLS is 5 lbs., 1 oz., but birth weights have been reported ranging from 1 lb., 2 oz. to 10 lbs. The average birth length is approximately 18 inches. Children with CdLS are often short and below average in weight when compared to others their age. Small head size (microcephaly) is a feature commonly associated with the syndrome.
The vast majority of children diagnosed with CdLS are intellectually delayed, with the degree ranging from mild to severe. Learning disabilities and severe language delays are often present. Although intellectual delay is considered essential for diagnosis, there have been cases of people with CdLS who have borderline to normal intelligence.
Gastroesophageal Reflux Disease (GERD)
It’s estimated that 85 percent of people with CdLS experience some type of gastroesophageal reflux. The pain that can accompany GERD can make eating unpleasant and lead to a variety of behavioral problems.
People with CdLS may exhibit a number of behavioral problems such as self-injury (head-banging, hand-biting, etc.), compulsive repetition, and/or autistic-like behaviors. Anxiety, Obsessive Compulsive Disorder, Attention Deficit Disorder and Attention Deficit Hyperactivity Disorder have also been noted.
Secondary Characteristics of CdLS
Prominent facial features include thin eyebrows that often meet at the midline (synophrys), long eyelashes, short upturned nose, thin downturned lips, low-set ears, and high-arched palate or cleft palate.
The following are common features in people with CdLS: small hands and feet, incurved fifth fingers (clinodactyl), partial joining of the second and third toes, proximally placed thumbs, and upper limb abnormalities, including missing fingers, hands or forearms.
Other System Abnormalities
Eye ailments such as blepharitis (inflammation of the eyelid), faulty or nonexistent tear ducts, ptosis (droopy lids), and extreme nearsightedness (myopia) can occur. Other medical concerns can include hearing loss, communication delays, feeding difficulties, seizures, heart defects, bowel abnormalities, undescended testes, and purplish discoloration of the skin (cutis marmorata).