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
Children with CdLS are often short and below average in weight when compared to others their age. 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. Average birth length is approximately 18 inches. 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 are cases of people with CdLS who have borderline to normal intelligence. Development chart specific for CdLS is available.
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. Feeding difficulties can occur in infants with CdLS, and it can be helpful to have speech pathology or occupational therapy involved early. Issues with bowel motility, including constipation, can be common. In addition, bowel obstruction may occur in CdLS and should be considered with any acute abdominal presentation.
There may be very slow weight gain, which is typical in CdLS, and the specific CdLS growth charts are helpful for reassurance. In adulthood, intake should be monitored since there is an association with truncal obesity.
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 and Attention Deficit Hyperactivity Disorder also have 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 (clinodactyly), partial joining of the second and third toes, proximally placed thumbs, and upper limb abnormalities, including missing fingers, hands or forearms, and hip dislocation or dysplasia.
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 or a lacey pattern on the skin (cutis marmorata).
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