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Characteristics of CdLS

Última modificación por Gerritjan Koekkoek el 2014/06/02 12:15

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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.

Developmental Delays

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.

Behavioral Issues

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

Facial Features

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.

Limb Differences

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).

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Creado por Gerritjan Koekkoek el 2011/05/14 08:11

                  

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