CdLS – Syndrome, Disease or Disorder?
I have variously heard CdLS referred to as a disease, disorder and a syndrome. What make CdLS a syndrome, and not a disease or a disorder?
The word syndrome has its roots in the Greek words “syn” (which means “together”) and “drom” (which means “running”). Literally it is the occurrence together of a sum of signs or symptoms. Syndrome usually connotes an abnormal state, but it may not be completely abnormal.
In contrast, both “disease” and “disorder” generally refer to a single abnormality or the single abnormal function of any body part, organ or system, which is manifested by the characteristic set of symptoms and signs. Syndromes may have single causes but are generally recognized by their multiple manifestations. Diseases are usually diagnosed by their single cause.
Take the lung, for example. Pneumonia is a disease or disorder which, specifically, is an inflammation of lung tissue. It may be caused by any number of bacteria or other kinds of infectious organisms, but it is always a lung tissue inflammation. On the other hand, the Pickwickian Syndrome is a syndrome of breathing insufficiency associated with being fat, like Mr. Pickwick. The breathing problem occurs when there is not enough movement of the diaphragm, and is accompanied by other signs of breathing trouble i.e. blue tint to the skin, etc. Syndromes are diagnosed by adding up all the signs.
LJ/TK 7-13-10
Legal Disclaimer: Please take note that the CdLS Foundation’s Ask the Expert service is comprised of volunteer professionals in various areas of focus. Response times may vary and a response is not guaranteed. Answers are not considered a medical, behavioral, or educational consultation. Ask the Expert is not a substitute for the care and attention your child’s personal physician, psychologist, educational consultant, or social worker can deliver.