Friday, August 10, 2007

About CdLS

Cornelia de Lange Syndrome is a congenital condition caused by 1-2 genes that decide to do their own thing. They're important genes, acting like light switches or dials that tell other genes how much to form during that batted-eye, God moment when sperm meets egg and life begins.

It's named after a Dutch doctor who saw some kids with similar issues in 1933 and figured, "Hey, there may be something to this." Another doctor, Brachmann, had similar hunches 16 years before, but missed out on the naming rights.

Known as CdLS, the syndrome is pretty rare: About 1 in 10,000 to 30,000 live births.

Like many other syndromes, many with CdLS look like they are related. Commonalities include low birth weight; thin, arched eyebrows; impossibly long, Betty Boop eyelashes; cute pug noses; thin, down turned lips and small stature. Some also have missing limbs, small hands and feet and thick heads of hair.

Severity varies, but almost all have some form of mental retardation and physical and developmental delays. Feeding and gastrointestinal difficulties are also common.

Another commonality: Photos don't do those with CdLS justice. They're lookers.

More resources at the Cornelia de Lange Foundation in Avon, Conn.

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