CdLS Awareness Day is an opportunity to educate the public and healthcare professionals about the little-known syndrome, which researchers believe remains undiagnosed in thousands of men, women and children. Diagnosis and medical monitoring are critical since complications related to CdLS can be life-threatening.
CdLS is a genetic syndrome occurring in about 1 in 10,000 live births. It affects males and females almost equally, and is found in all races and ethnic backgrounds. CdLS is not hereditary in most cases; rather it is caused by a random change in one of three genes during conception.
Although individuals with CdLS range from mildly to severely affected, most have similar physical characteristics: small size, hands and feet; eyebrows that meet in the middle; long eyelashes; upturned nose; and thin, downturned lips. Some individuals have limb differences, including missing fingers or arms, and partial joining of the toes. Common medical problems include gastro-esophageal reflux disease, hearing loss, heart defects and feeding difficulties.
Behavioral issues, including self-injury, aggression and obsessive-compulsive acts, are not uncommon. More than half of people with CdLS are considered to be on the autism spectrum. Mental retardation or learning difficulties are often present. With proper diagnosis and medical care, people with CdLS can live a full life, well into adulthood.
More information about the syndrome is available from the CdLS Foundation Web site, www.CdLSusa.org or by calling the CdLS Foundation at 800-753-2357.
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