CDLS

CDLS is known as Cornelia de Lange Syndrome. This is a genetic disorder. People with this syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to sever. The syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges. Some common medical issues with this syndrome are gastroesophageal reflux disease, heart defects, seizers, feeding difficulties, vision problems, and hearing loss. They may also have Limb differences, including missing arms, forearms or fingers, are seen in about 25 percent of individuals with Cdls. People with Cdls also have very specific facial features such as arched thick eyebrows, long eyelashes, low front and back hairlines, a short upturned nose, downturned angles of the mouth and a thin upper lip, low set and malformed ears, and cleft palate.

There is a foundation know as the Cdls Foundation. The Cdls Foundation has a unique symbol.

This is a near and dear condition for me as I personally know some one with this syndrome. The life expectance of this syndrome differs from case to case. A good many of the people diagnosed Cdls will live well into adulthood, however each child must be evaluated for life threatening conditions such as heart defects, untreated gastroesophageal reflux, and bowel abnormalities. Cdls is a very rare disorder that appears at birth. Males and females are affected and it occurs in approximately in every 10,000 live births in the United States. The Children's Hospital of Philadelphia (CHOP)  have had cases of Cdls. How is Cdls diagnosed? Well it is done primarily through a clinical based exam and this is done on someone showing signs and symptoms. The diagnosis and evaluation are both done by a physician due to there being a need for the diagnosis confirmation and assessing which gene is involved. Cdls while being a developmental disorder that affects many parts of the body in 30 percent of cases the underlying genetic cause of the condition is unknown. Clds can be inherited in an autosomal dominant (NIPBL, SMC2, or RAD21) or X-linked (SMC1A, or HDAC8) manner. This information was found on the Rare Diseases Info. Another organization that has good information is NORD (National Organization for Rare Disorders).