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Physical Features
Subtle yet distinctive physical features develop in people with Smith-Magenis Syndrome. These are often unnoticeable when the child is first born, though they simply have a fleshy upper lip with a cupid bow, and chubby rosey cheeks, giving them a cherub or doll like appearance. Infants with the syndrome also often have redundant fat folds, likening to that of the Michelin man. As infants grow older, these physical features become more prominent. They develop a flat nasal bridge, heavy eyebrows, midface retrusion, a short upturned nose, full cheeks, downturned mouth, and protruding lower jaw. As a result of the facial features many individuals are initially misdiagnosed as having Down’s Syndrome. As well as developing distinctive facial features, many people with Smith-Magenis Syndrome develop other physical features. These can include a short stature, mild skeletal abnormalities, scoliosis (curvature of the spine) and short broad hands.

Behavioural Phenotype
When individuals with Smith-Magenis Syndrome are infants they are often very sociable with the tendency to smile a lot. Despite symptoms of hypotonia and often a failure to thrive, they appear healthy and thus primary care givers often miss signs leading to a late diagnosis. Infants with Smith-Magenis Syndrome are often described as the perfect babies as they do not often cry, even having to be woken for feeding. This corresponds with early signs of sleep disturbances, though there is little current literature on sleep disturbances in infants with the syndrome. Infants with Smith-Magenis Syndrome often have problems with feeding. This is thought to be due to a lack of ability to suck and swallow, an aversion to the texture of food, and also stomach acid reflux. Individuals with Smith-Magenis Syndrome may exhibit behavioural problems. They can often become aggressive, with severe temper tantrums be impulsive, demonstrate repetitive behaviour as well as attention deficits and attention seeking behaviour These negative behaviours are often driven by impulses, though medication is available to try and control them. During schooling, students with Smith-Magenis Syndrome are often very adult orientated and constantly seek the attention of their teacher. When this attention is denied or prevented they may become aggressive towards others. Individuals with Smith-Magenis Syndrome often work best in smaller calm groups, as they are easily distracted. Smith-Magenis Syndrome also has associated positive behaviour. Many individuals with the disorder are very eager to please, maintain excellent eye contact, are highly sociable and have a well-developed sense of humour. People with Smith-Magenis Syndrome are described as caring and loving individuals.

Self-injurious Behaviours
Self-injurious behaviour is relatively common with individuals diagnosed with Smith-Magenis syndrome It is not unheard of for parents of children with Smith-Magenis Syndrome to be reported for abuse due to the injuries the children cause themselves, through self-injurious behaviours or uncontrolled rages. The injury they cause themselves s also thought to be due to a reduced sensitivity of pain, associated with Smith-Magenis Syndrome. Self-injurious behaviours often include head banging, wrist biting, and skin picking. Polyembolokoilamania (the insertion of foreign objects into bodily orifices) and Onychotillomania (the tearing off of hand and toe nails) are two self-injurious behaviours unique to Smith-Magenis Syndrome, however only 25-30% of people with Smith-Magenis Syndrome display these behaviours. Some self-injurious behaviour is age related, for example head banging and wrist biting can occur as early as the second year of life, whereas onychotillomania is uncommon before they age of 5 or 6 years.

Self Hugging
Self-hugging is a behaviour exhibited by those with Smith-Magenis Syndrome when they are extremely happy These movements appear to be involuntary. Two types of self-hugging have been demonstrated; and upper body movement holding their self and clasping hands with interlocked fingers at chest or chin level. The action of hugging is also often associated with a facial grimace. This hugging behaviour is not restricted to the self as people with Smith-Magenis Syndrome often hug family, friends and even pets with excessive force. It has been reported that some small pets have actually been hugged to death by their owner, who has the syndrome.

Intellectual Disability
Individuals with Smith-Magenis Syndrome have varying degrees of intellectual disability, with scores of IQ measuring between 20 and 78, with the majority of scores being moderate, falling between 40 and 54. As well as a reduced IQ score, 96% of individuals with Smith-Magenis Syndrome experience speech delays, with or without hearing loss This can often lead to frustration at the inability to communicate. The use of sign language is effective in reducing these frustrations by giving the individual the opportunity to communicate through another means. Speech and language therapy may also be undertaken. Often receptive language skills are much better than expressive language skills.

Sleep Disturbances
75% of people with Smith-Magenis Syndrome demonstrate sleep abnormalities. These include difficulties falling asleep, excessive day time sleepiness and frequent and prolonged periods of being awake at night. This is due to an inverted circadian rhythm of melatonin. The lack of sleep as a result of the disturbances is often attributed to the behavioural problems in people with Smith-Magenis Syndrome. In typically developing individuals in the evening the production of melatonin increases, and throughout the night it steadily decreases. This cycle is inverted in people with Smith-Magenis Syndrome, causing them to feel tired during the day and more awake at night Medical treatments can reduce the effects of sleep-related problems. Taking acebutlol in the morning combats the increase of melatonin that occurs during the daytime, whilst taking melatonin in the evening increases the amount to more normal levels, allowing people with Smith-Magenis Syndrome to feel tired.

Links to Autism
It has been found that 90% of people diagnosed with Smith-Magenis Syndrome will also have a diagnosis of Autism (35% mild-moderate, 55% severe). Autistic like behaviours have been shown to occur in individuals with Smith-Magenis Syndrome around the ages 2-3 years, such as expressive language delays as well as other mild- moderate autistic behaviours.

Related Health Disorders
There is a range of physical health problems associated with Smith-Magenis Syndrome. These can include myopia(short-sightedness), a reduced sensitivity to pain and temperature, Hyporeflexia (a reduced reflex response), Hypotonia (a decrease in muscle tone), high frequency of retinal detachment in patients who have high myopia, and ear infections. 11-30% of people diagnosed with Smith-Magenis Syndrome experience epileptic seizures, with 25% presenting electroencephalographic abnormalities without a history of seizures. Complex partial seizures appear to be the most frequent, though there is no characteristic seizure with Smith-Magenis Syndrome.