CdLS is not a “one size fits all” condition. An individual may have many of the following traits, or only a select few. Children with CdLS are often short and below average in weight when compared to others their age. The vast majority of children diagnosed with CdLS are intellectually delayed, with the degree ranging from mild to severe. 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.
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. 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).