Weaver Syndrome

By Kelvin Mukosa

What is Weaver Syndrome?

Weaver syndrome is a rare congenital disorder that deals with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. Disorder characterized by skeletal abnormalities and developmental delay. It is considered an overgrowth syndrome because the bones of affected individuals grow and develop more quickly than usual (advanced bone age) both before and after birth. Adult height is typically normal to tall.

Symptoms

  • 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

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Radiographs of the skull at the age of 10 days.
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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 “enhancer of zeste 2 polycomb repressive complex 2 subunit.”

EZH2 gene location

The EZH2 gene is located between positions 35 and 36 in chromosome 7 .
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Life expectancy

Normal life span
Weaver syndrome makes 3-year-old look like he's 8

Cure/Treatments

There is no cure for weaver syndrome, but there a some possible treatments for this condition.

For Example

  • 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.