Simpson Golabi Bemhel Syndrome
My son has been diagnosed with a very rare genetic abnormality called Simpson Golabi Bemhel Syndrome -- betcha never heard of it!!! I am going crazy trying to locate info (in plain English vs. medical jargon) regarding SGB. Any information or leads would really help a great deal.
Question:Robert Steele
Robert W. Steele, MD, is a board certified pediatrician at St. John's Regional Health Center in Springfield, MO. He graduated from medical... Read more
Well, as much as I hate to admit it, you are right. I had never heard of Simpson Golabi Bemhel Syndrome. However, considering there a over 100 rare genetic diseases described in the medical literature, I'd like to think you could cut me some slack on this one. Nonetheless, your formidable task to find the information you seek is one of the reasons I find pediatrics so interesting. Knowledgeable parents like yourself keep me on my toes and provide me lifelong learning.
Therefore, after having done some extensive research, I'll try to explain your son's diagnosis in plain English:
The DNA that makes us who we are is a code which the body translates into proteins, enzymes, hormones, and other structures essential for function. When a section of DNA has a "mistake" in it, the protein or hormone or whatever that code corresponds to doesn't get made correctly. This mistake can make that protein work better, work differently, work poorly, or not work at all.
Boys receive an X chromosome from Mom and a Y chromosome from Dad. Boys with Simpson Golabi Bemhel Syndrome have a mistake in the DNA on the X chromosome. This mistake occurs at a site which corresponds to making a microscopic structure called a proteoglycan. There are many types of proteoglycans but the specific one affected is called glypican 3. The actual purpose of glypican 3 is not entirely known, however, it is thought to play an important role in controlling the growth of certain tissues of the body. With growth unchecked, these tissues can become much larger than they ought to. This accounts for why these children often are tall, have larger broader features about the face, and may have broad hands, thumbs, and toes. The actual features of Simpson Golabi Bemhel Syndrome vary quite a bit from child to child including development which is why it is important for these children to be at least initially evaluated by a pediatric developmental specialist and pediatric geneticist.
While there is no specific Simpson Golabi Bemhel Syndrome support group or society that I know of, there are several well-respected organizations which have additional information concerning this rare genetic disorder. Below, I have included the names of these groups along with web sites where you can find their addresses, phone numbers and additional information.
• Children's Craniofacial Association
• FACES (The National Association for the Craniofacially Handicapped)
• March of Dimes Birth Defects Foundation
• NIH/National Arthritis and Musculoskeletal and Skin Diseases
• The Arc (a national organization on mental retardation)
