Amateurs association for Smith Magenis Syndrome

Safnast hafa 231.000 kr.

Smith-Magenis Syndrome

Smith-Magenis Syndrome (SMS) is a rare neurobehavioral disorder characterized by a recognizable pattern of physical, behavioral, and developmental features. It is caused by particular genetic changes on chromosomal region 17p11.2, which contains the gene RAI1.

Incidence

SMS is a rare disorder that occurs in between 1 out of every 15,000 to 25,000 births. Although the number of individuals diagnosed with SMS has increased in recent ears due to better diagnostic tools, the syndrome likely remains under diagnosed.
Your participation in PRISMS SMS Patient Registry will help us achieve a more accurate understanding of the incidence rate.

 

COMMON FEATURES INCLUDE:

  • Developmental delay/intellectual disability
  • Hypotonia (low muscle tone)
  • Poor gross motor and fine motor skills
  • Feeding problems in infancy (poor suck/swallow); failure to thrive or difficulty gaining weight (<3 years)
  • Speech delay
  • Characteristic facial appearance (broad forehead, down-turned “tent”-shaped upper lip vermilion, short upturned nose)
  • Short fingers and toes
  • Distinct, broad-based gait (style of walking)
  • Scoliosis (abnormal curvature of the spine)
  • Vision problems (strabismus; nearsightedness)
  • Middle ear abnormalities, chronic ear infections
  • Hearing impairment
  • Hoarse, deep, sometimes nasal voice
  • Decreased sensitivity to pain; hypersensitivity
  • Constipation
  • Sleep disturbance (frequent nighttime awakenings; daytime sleepiness)
  • Self-injurious behaviors
  • Prolonged tantrums, explosive outbursts, impulsivity
  • Arm hugging/hand squeezing
  • Endearing and engaging personalities
  • Excellent long-term memory for names, places, events
  • Great sense of humor
  • Eagerness to please and sensitivity towards others
Status
Contributions: 44
Donation count
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10
27.000 kr.
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181.000 kr.
9
23.000 kr.

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