Smith-Magenis Syndrome
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.
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Fluorescent in-situ hybridization is a process whi...
Top: FISH (Fluorescence in situ hybridization) lab...Some characteristics during infancy are a "cherubic" facial appearance, happy disposition, infrequent crying, low muscle tone, and feeding problems. Those with SMS also experience sleeping problems too such as frequent awakenings and increased daytime naps.
Some of the Behavioral and Developmental Characteristics are speech delay and articulation problems, developmental delay, learning disabilities, mental retardation, and hyperactivity. Some of whom will do injury to themselves such as head banging, hand biting, picking at skin, sores, and nails, pulling off finger and toe nails, inserting foreign objects into ears, nose or other body orifices. They can have explosive outbursts, prolonged tantrums, destructive and aggressive behavior, excitability, and arm hugging or hand squeezing when excited. Some people with SMS can never show and behavior problems at all, although some degree of...