Smith-Magenis Syndrome (SMS) is a micro-deletion in chromosome 17p11.2 or a mutation of the RAI1 gene. Smith-Magenis Syndrome is typically detected through a FISH analysis or G-banding. However, some of the new cost effective tests that have detected Smith-Magenis Syndrome are MLPA, qPCR and micro array CGH testing. There are currently only 600 people in the world diagnosed with Smith-Magenis Syndrome.
Individuals with SMS are sweet, affectionate, helpful, joyful, enthusiastic, compassionate, determined, resilient, courageous, fun-loving, comical, amazing people with beautiful souls. They provide love to all those around them like no one else can! Their smiles fill rooms with sunshine and their laughter fills rooms with happiness. They are devoted, faithful, sincere and have unconditional love. They are nonjudgmental and they only see abilities in others. Their loving ways are immeasurable! They are living with Smith-Magenis Syndrome but they are not their syndrome.
A flat mid-section of the forehead and bridge of nose, tented upper lip and down-turned mouth. Prominent and usually rosy cheeks (cherub-like as infants), broad and square shaped face, prominent jaw/extension of the mandible (usually more noticeable in older children and adults), deep set eyes, dark eyebrows that meet in the middle, flat and wide or disproportioned head.
Sleep Disturbance **(frequent night awakenings, sleepiness in day/frequent napping, reduced REM sleep, early morning awake times 4:30-5:30 a.m.) due to an inverted circadian rhythm.
**It is very important to note that while a common core group of features are seen in virtually all persons with SMS (sleep, behavior, self-injury, developmental delays, speech delays, motor delays, craniofacial and skeletal differences), SMS is variable and dependent on the 17p11.2 deletion size or if due to mutation of RAI1.