Smith Magenis Syndrome – Pictures, Life Expectancy and Symptoms


What is Smith Magenis Syndrome?

Smith Magenis Syndrome is more famously known as the “self-huggers syndrome” or SMS. It is characterized by an tic-like involuntary movements wherein the persons crosses both arms across his or her chest or clasps his or her hands while he or she squeezes the arms in to his or her sides. It is known to be the mental retardation, rare multisystem disorder and congenital anomaly type of syndrome. It is greatly associated to the child’s development. It is a rare occurrence which happens in about a ratio of 1 out of 25,000 newborn children.

History

Ann Smith, who was then a medical geneticist by then, was the first one who described the syndrome way back in the year 1892. While Ellen Magenis, who was a cytogeneticist, was the one who outlined the clinic spectrum of the syndrome during the year 1986. They were able to come up with the causative factor which causes this syndrome, which is the deletion of the person’s chromosome17p11.2 region. Hence, the syndrome was being named after the discoverers of this syndrome, who were Smith and Magenis.

Symptoms and Signs

The persons inflicted with Smith Magenis syndrome are commonly children, who possess the following characteristics or signs and symptoms:

  • Square shaped face
  • Full cheeks
  • Deep set eyes
  • Prominent lower jaw
  • Flat appearing bridge of the nose
  • Mouth is downward with full, outward curve of the person’s upper lip
  • Disruption of the sleep pattern cycle or having an inverted circadian rhythm which is awake at night and asleep by day
  • Anxious
  • Aggressive
  • Impulsive
  • Polyembolokoilamania or wherein the person pulls out the nails and stuffs objects into almost all bodily orifices
  • Having difficulty to pay attention
  • Head banging
  • Hyporeflexia
  • General lethargy
  • Temper tantrums
  • Onychotillomania or the habit of pulling the nails
  • Hypotonia
  • Hitting
  • Involuntary movements which are tic-like
  • Skin picking
  • hyperactive
  • Biting
  • Repetitive self hugging
  • Lick and flip behavior wherein they most of the time do compulsive licking his or her fingers and flipping the pages of the magazines or books.
  • Short stature
  • Positive for scoliosis
  • Reduce sensitivity to temperature
  • Sensitivity to pain is reduced
  • Hoarseness of the voice
  • Delayed psychomotor development
  • Deficiency in expressive language
  • Myopia
  • Strabismus
  • Mental retardation
  • Heart defects
  • Kidney defects
  • Hear loss

Causes and Risk Factors

The cause of why newborn experience Smith Magenis Syndrome is due to the fact that there is a deletion of chromosome 17, which occurs in the early gene mutation phase upon the development of the fetus. When this happens, there will be a mutated gene which is termed as RAI1, which known to contribute to the central nervous system development. Studies show that this syndrome is inherited in a rare occurrence. There have been reports that persons who have been diagnosed with this syndrome have no medical family background or history of having the Smith Magenis syndrome.

Genetics

This kind of syndrome has a genetic problem. Researchers reveal that the main cause, as mentioned earlier, deals with deletion of chromosome 17p11.2 area which encodes the RAI1 or what is commonly called as the retinoic acid induced 1. The particular loss of RAI1 leads to the symptoms experienced by the patients diagnosed with this condition. As of the moment, the RAI1 gene mutation’s function is still unknown and further studies are still undergoing.



Diagnosis

In diagnosing persons who are inflicted with this syndrome, physicians would often do the following examinations:

  • Medical history examination
  • Physical examination
  • FISH or Flourescence In Situ Hybridization (confirmative diagnosis) examination
  • Chromosome or cytogenetic analysis examination (confirmative diagnosis)

Treatment

The aim for the treatment of persons that are diagnosed with Smith Magenis Syndrome is through symptom management and support management such as:

  • Speech therapy
  • Occupational therapy
  • Physical therapy
  • Behavioral Therapy
  • Hearing aids
  • Educative Learning Therapy
  • Music Therapy
  • Macrobiotic diet which focuses on vegetarianism and consuming healthy foods only

Medications such as

  • melatonin which will regulate the circadian rhythm
  • risperdal which regulates the violent behavior
  • amitriptyline which helps in promoting sleep and treating depression episodes
  • Other drugs such as anticonvulsant and antipsychotic drugs can be also prescribed for patients with this kind of syndrome
  • In sum the treatment is done through a multidisciplinary approach which needs the experts in the following field: genetic counselors, psychologist, pediatricians, clinical geneticist, speech therapist, molecular biologist, physical therapist and the like.

Prognosis

Since the Smith Magenis syndrome occurs earlier in life, prompt treatment is a necessity. In such case, the prognosis is good. Most often this is the case with patients who have this diagnosis. With the right support and care for the patient, he or she can thrive into this life in a normal phase.

Life Expectancy

Persons who are diagnosed with Smith Magenis Syndrome may have the same life expectancy to a regular and normal person. Research says that with there is no problem with life expectancy. Persons with this condition often lives up to 60s to 70s year old or in any normal person would live. Same with the prognosis, the person should not worry about the life expectancy. They just have to focus on giving support and proper care for the patients or the persons having this kind of condition. With the right amount combined, they are guaranteed to live throughout his or her lifespan.

Complications

The complications which are associated with persons having Smith Magenis Syndrome include the following:

  • Mood problems
  • Ear infection
  • Back problems
  • Hearing Loss
  • Heart Problems
  • Retinal Detachment
  • Kidney Problems

Prevention

As of the moment, since this is a rare, random and non-inherited kind of syndrome, there are no preventive measures done to prevent the occurrence of Smith Magenis Syndrome. Only treating it promptly and having an early diagnosis will ensure that the person won’t be able to encounter worsening of the condition.

Pictures

Smith Magenis Syndrome picture

Smith Magenis Syndrome image



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One Response to “Smith Magenis Syndrome – Pictures, Life Expectancy and Symptoms”

  • Ingrid Muenstermann, PhD says:

    Thank you for this website. I will use some of data in a Master’s of Public Health research application.
    Very informative and straight to the point.
    Ingrid


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