Charge Syndrome By: Madison & Kellis

CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: The most common defect is ear abnormalities.

CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 newborns.

The cause of this birth defect is mutations in the CHD7 gene cause most cases of CHARGE syndrome. The CHD7 gene provides instructions for making a protein that regulates gene activity (expression) by a process known as chromatin remodeling.

What is the CHD7 gene? // The CHD7 gene provides instructions for making a protein called chromodomain helicase DNA binding protein 7. This protein is found in many parts of the body before birth, including the eye, the inner ear, and the brain. In the brain, the CHD7 protein is active in several areas, including a bundle of nerve cells (neurons) called the olfactory bulb that is critical for the perception of odors. ( Basically helps form the body parts)

  • Symptoms:
  • Missing or decreased ability to smell
  • Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye): CAUSES VISION LOSS
  • Swallowing difficulties, aspiration

Unfortunately, they are no longer making a diagnosis for Charge Syndrome, in the past there have been some ways to help with symptoms but never fully treated the birth defect. Which also means there is no treatment for this syndrome. Also as for prevention there is many things doctors have invented to help these kids born with this syndrome.

Ear form characteristic of a person with CHARGE syndrome, along with her cochlear implant.

[Works Cited: [ https://ghr.nlm.nih.gov/ ] [https://www.chargesyndrome.org/about-charge/overview/] [https://en.wikipedia.org/wiki/CHARGE_syndrome]

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