Smith-Magenis Syndrome (SMS) is a disease where there is a small deletion (missing section) of one member of their 17th pair of Chromosomes. To educate you on SMS I will tell you the Characteristics, Genetics, The Diagnosis, and about Early Detection, Diagnosis, and Intervention.
Someone with SMS will have a variation of unusual behavior and physical characteristics. A person with SMS may have only a few or a lot of these features mentioned. Some physical features of a person with SMS are Short stature, facial appearances are flattened mid-face, down-turned mouth, reoccurring rosy cheeks, prominent jaw in older children and adults. Although facial characteristics are noticeable they can be fairly subtle also.
There are also chronic ear infections, hearing impairment, eye problems such as Strabismus (an eye which turns in or out) and Myopia (nearsightedness). They can suffer from hoarse voice, short finders and toes, heart defects/murmurs, problems related to the urinary system, Scoliosis (curvature of the spine), an unusual walking pattern, and a decreased sensitivity to pain.…
