By Kelvin Mukosa
What is Weaver Syndrome?
Rapid growth- usually starts before birth
Physical growth and bone development can occur fast than average.
Increased muscle tone; loose, saggy skin
Psychomotor retardation- Slow development of voluntary movements such as sitting, standing, and walking in early childhood
Macrocephaly- large head
What is affected?
- Chromosome 7 is affected in this condition.
- The protein Histones does not function correctly. Histones are alkaline (basic pH) proteins. They are found inside the nucleus of eukaryotic cells. Their purpose is to package DNA into structural units called nucleosomes. They are the main proteins in chromatin (a combination of DNA and protein), which makes up the contents of a cell nucleus. Because DNA wraps around histones, they also play a role in gene regulation. (N.p., n.d. Web. 05 Jan. 2016. )
Cause of gene or mutation
EZH2 gene location
There is no cure for weaver syndrome, but there a some possible treatments for this condition.
- Surgery can be taken to correct skeletal disorders.
- Physical therapy when the child is a toddlers so that they can be helped with their motor skills.