Wolf-Hirschhorn Syndrome

By: Juliana

Main Definition

Wolf Hirschhorn Syndrome is a genetic disorder that makes you have more separate eyes and a bigger forehead along with other physical appearances.

What other names are there for this disorder (Any common names?)

This disorder doesn't have any common names. People usually call it the Wolf-Hirschhorn disease or the 4p deletion syndrome.

What causes the disorder? (mutation, nondisjunction)

This genetic disorder is caused by the deletion of the chromosome 4, since it is missing one part of it. (4p16.3)

What are the symptoms?

The symptoms for this disease are face disorders, delayed growth, bad intellectual ability, and seizures. The physical appearance of this genetic disorder is having a big forehead and very big and separate eyes from each other. This is called the “Greek Helmet Warrior” appearance because it looks like you have a helmet in your head.

What gene or chromosome is affected by this disorder (X,Y, #21)

The chromosome that is affected is the chromosome #4, which one of the strands get cut off. This is called deletion.

What population is affected? Can anyone be a candidate for the disorder?

Studies say that in every 50,000 births, one human has this disorder. About 85-90 percent of the people that have this disorder have them because there was an error in the chromosome 4 (it was random).


In a small percentage of the disease, there are cases that have the deleted piece of chromosome attached to another chromosome, and they form a ring, and that can be a form of WHS.


In the rest of the percentages, there is a study that shows that there are possibilities that this disease is transferred by one of the parents, that has translocated genes. This means that one of the parents could have had this, but this didn't affect them, only the offspring.

What is the current status of research on this disorder? Is there a cure coming soon?

No, there is no cure because there is no way this syndrome can be prevented. But, there are treatments for specific features the person has, like injections and medication.

Can this individual have children in the future? Will those children be affected?

The people with this case cannot have kids in the future, in lack of the chromosomal ability to reproduce and make a new sex cell.

Could this disorder have been prevented?

This disorder cannot be prevented because this mutation is random, it only has more chance to happen if the father has translocated genes.

Are there any treatments or cures?

There is no known cure for this syndrome, but the seizures that some babies have usually have fade when they get older.

What kind of medical assistance will the affected child need?

There are cases when the affected had to have a doctor or assistant 24 hours per day for medication and if anything goes wrong. The affected person usually has great social skills, but the kid can't speak and do other features that involve communication.

Will further assistance be needed, as the child grows older?

Yes, because this disease will always need special attention because of the lack of communication each individual has.

What is the long-term outlook for the child?

The outlook depends of the feature that this person has. The person life-expectancy is unknown because of the strength of the person. Doctors say that a person is most likely to survive for longer because of treatment, and that people underestimate the time that people will survive with this disease,

How is it inherited? (Is it sex-linked, recessive, and/or dominant?)

This syndrome in inherited by sex cells, in the reproduction of the new sex cells, where the chromosomes are joined together and they are in pairs. In one of the chromosome, one strand was cut off.

Are there prenatal tests for this disorder?

There are no prenatal tests, but if you have translocated genes or chromosomes in a ring form, there are way more chances of this mutation to happen to the offspring.

Fun Facts

  • This syndrome affects double the amount of females than males. The ratio for that is 2:1, females to males, respectively.
  • About 35% of the people who are born with this disorder die within two years of their life.