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Smith Magenis Syndrome
Smith Magenis Syndrome
Nicknames
Smith Magenis syndrome is also known as SMS or 17p- syndrome
Nicknames and symptoms
Symptoms of SMS
- Individuals may show signs of behavioral problems such as frequent temper tantrums and agression. They can also have delayed speech
Symtoms
- May also have distinctive facial features such as a prominent forehead, broad square-shaped facial appearance, and an underdeveloment of the middle portion of the face
What causes SMS?
Can be caused by mutation in RAI1 gene.
Genetic causes
Affected chromosome
Affected
chromosome
Deletion of chromosome 17
- Deletion occurs on the short (p) arm
Are there any treatments?
- There are no treatments or cures but if Psychiatric symptoms show they should be taken with specific medication
Treatments/Prognsis
Life expectancy for someone with SMS is around 40 to 50 but someone has lived to 88 with the syndrome
Statistics
- It affectes both male and female equily many people with this condition are not diagnosed.
Population affected
- Many people with this conditioon are not diagnosed
1 in 15,000 to 25,000 chance of getting
Research
Smith Magenis syndrome affects many developmenal parts of the body. People with SMS have a different face structure than normal and have behavior problems. People with this condition also have sleep disorders and trouble sleeping at night and usually take melatonin. Early speech therepies are an early prevention of behavioral disorders.
Research
Support groups
- For supoort groups you have PRISMS where they provide imfornation and support to families of a person with SMS
Support Groups
- You also have the Smith Magenis syndrome foundation UK. Their mission is to help get you imformation and not let anyone feel alone.
Sources
Treatment strategies
https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0330-x#Sec13
Symtoms
https://medlineplus.gov/genetics/condition/smith-magenis-syndrome/#:~:text=These%20include%20frequent%20temper%20tantrums,unique%20to%20Smith%2DMagenis%20syndrome.
Soruces
Symtoms/nicknames
https://rarediseases.org/rare-diseases/smith-magenis-syndrome/
Support Groups
- https://www.prisms.org/
- https://smith-magenis.org/about-us/our-vision-mission-and-values/
Normal karyotype
Karyotypes
SMS Karyotype
The small arrow shows chromosome 17 is deleted