The Wolf-Hirschhorn Syndrome

by Emalee B., Mateo C., and Walker H.

Introduction of the Syndrome

When splitting up the name of this syndrome, we find wolf, hirschhorn, and syndrome. Wolf is the last name of a person who first described it. Hirschhorn is the last name of another person who first described it. And finally syndrome is simply the description of the disease itself because it was identified as a mutation.

The Start of the Syndrome

This mutation can be one of the worst ones. We are not sure whoever first was discovered with the exact syndrome, but we do know what the exact effects of the syndrome. These symptoms are caused by the missing part of chromosome 4. Abnormally, you are supposed to have the full chromosome. Somehow in this syndrome, this part of chromosome 4 was forgotten about in the translation process to be copied.
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Discovery and Identification

Herbert Cooper and Kurt Hirschhorn were the first scientists ever to identify and discover the Wolf-Hirschhorn syndrome. They discovered the symptoms and how these symptoms occurred. They found out that the symptoms were caused by the missing karyotype in chromosome 4. This was discovered in 1961 when scientists noticed some wrong mutations in some people. That caught Kurt's and Kooper's attention.

Kurt Hirschhorn

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Ulrich Wolf

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Symptoms and Effects of the Syndrome

Some effects include a slightly subnormal facial appearance, slowed growth and body development, loss of some intellectuality, and occasional seizures.

Life Expectancy

About 35% of people die within the first 2 years. The rest live to about 30 years. Rarely someone survives to live in their 50s. Thankfully only 1 out of every 50,000 babies are found with this life threatening mutation.

Can it Be Noticed in the Genes of a Fetus?

Nothing can be done to diagnose a fetus with wolf hirschhorn syndrome until the fetus starts to develop. After the baby is born doctors can see what the child looks like and test their blood to see if the newborn child has any disease.

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The only way a person can tell if their child has this syndrome is to have an ultrasound done after two or three months of pregnancy. The way the child develops is how you can identify if the child has the disease or not.

Project Storyline

People may not know this at first but there are many children who have a disease that makes them look strange. This disease is called Wolf-Hirschhorn disease. It may sound strange but it is very alarming. This disease affects the way the body develops. The people with this disease normally get made fun of because they look weird. The way people normally fix the affects of this disease is through surgery and the recovery is not so easy. They go through a lot of pain because of this disease. But some are luckier than others. Take Johnny, a middle school student for instance. He has Wolf-Hirschhorn syndrome and had to go through a lot of surgery to fix his face. He didn’t like the surgeries, but he went through with them because he thought that he might have a chance to be normal and live his life without getting made fun of. He did what he had to because he had hope for the future. Not all kids with this disease have that kind of hope. These kids try to hide and never show their faces to people except their families. That is why this disease is special because it can give hope and take hope away. The kind of hope Johnny has is hope for the better. He is special because he holds on to his dreams and never let's go. Johnny has gone through a lot of hard times to finally get to his dreams. He never gave up and never let his dreams go. When he was born part of his lip was missing, his eyes were lower than they were supposed to be, his ears had parts missing, so it looked like he had no ears. He was trying to make a lot of friends with his personality instead of his looks. He had lots of fun despite his problem. But he still had a hard time with his surgery and tried to stay positive. This is how the Wolf-Hirschhorn syndrome affects many children with this disease.

Fun Facts

  • There are many other names this disease is recognized as.
  • There are about 15 effects known so far.
  • It is not contagious.
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Thank You!