What is CDLS?

May 9th is National Cornelia DeLange Syndrome or CDLS Awareness Day. A group of moms are dedicating a post to raise awareness of the genetic syndrome that touches our lives daily.
Our son Jacob was born with this rare genetic condition. When Mike and I first heard that Jacob had CDLS we turned to the Internet to see if we could find any information. I felt blessed that my search led me straight to the CDLS official website and that this site had a wealth of information.
As I tried to digest the information I felt so overwhelmed at the many health problems, surgeries and challenges that lay ahead for our family, but was comforted by my faith and the stories of other families affected by this rare genetic syndrome. One of the main reasons we need to raise awareness is that there are hundreds of children that go undiagnosed and this can mean the difference between life and an early death.

Jacob birthweight 3.11 pounds length 16 inches

CDLS FACTS

How is CdLS recognized?
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.

As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips.

Other frequent findings include excessive body hair (hirsutism), small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals

How is a diagnosis made?
The diagnosis of CdLS is primarily a clinical one based on signs and symptoms observed through an evaluation by a physician, including a medical history, physical examination, and laboratory tests. This is best accomplished through a referral to a genetics specialist or clinic.

How many people have CdLS?
The exact incidence is unclear, but it is thought to be approximately 1:10,000 live births.

What causes CdLS?
Researchers have identified genes that, when altered, cause CdLS.

Please take the chance to visit the official CDLS website at http://www.cdlsusa.org/

To learn more about other children with this syndrome you can find their Blogs on the right side of my page under the heading CDLS Bloggin Buddies.