Wolf Hirscchorn Syndrome

When some parts of chromosome 4 are missing, particularly affecting the genes found on its short arm, Wolf Hirschhorn syndrome arise. The deletion of some of the genes in chromosome 4 has a huge impact on the facial features, growth and intelligence as well as an assortment of birth defects and abnormalities. The syndrome is rarely inherited as it is usually due to an error that took place sometime during conception.

There is no definite way to treat Wolf Hirschhorn syndrome. The condition is typically managed through supportive care with the symptoms being addressed as they occur. Depending on the extent of the physical, developmental and intellectual anomalies, a team of doctors will design a suitable treatment regimen based on the specific needs of the patient.

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How does Wolf Hirschhorn Syndrome develop?

WHS develops when some of the genes on the end part of chromosome 4’s short arm are missing or deleted. Experts believe that the genetic deletion occurred during the early stages of embryonic development. Some of the genes responsible for causing the hallmark symptoms of Wolf Hirschhorn syndrome have been identified, and these are:

  • WHSC1

This gene is involved in the growth and developmental delays as well as the distinctive facial features of those afflicted by the condition.

  • MSX1

The MSX1 gene is important in the proper development of the fingernails, toenails, teeth and many structures of the body. The deletion of this gene results in dental abnormalities and various structural anomalies in the mouth, like cleft lip and palate.

  • LETM1

This gene is involved in the functioning of the mitochondria – the power producer inside the cell. The deletion of this gene on the short band of chromosome 4 has been found to affect the electrical activity inside the brain and cause seizures.


Researchers are continuously trying to identify the other genes affected that cause the distinctive features of the syndrome.

How prevalent is Wolf Hirschhorn syndrome?

The syndrome has been found to affect 1 child out of 50,000 births, but experts believe that the number could be much higher because many cases are undiagnosed. Studies also showed that the syndrome is twice more common in women than in men and no one knows why this is so. Wolf Hirschhron syndrome could be a results of any of these three occurrences:

  • Random events

Most cases of WHS arise as a result of random events when the reproductive cells are rapidly forming. This accounts for 85% to 90% of cases and explains why the syndrome occurs even without a family history.

  • Chromosomal abnormality

The syndrome could also be brought forth by a chromosomal abnormality, such as when the ends of the chromosome fuse together causing the genes found therein to be deleted. This event is referred to as ring chromosome 4.

  • Inherited

The structurally-altered gene is sometimes passed on the offspring. A parent may not show any symptoms of WHS but the child does.


Wolf Hirschhorn syndrome was named after Ulrich Wolf and Kurt Hirschhorn in 1965. It was the American Kurt Hirschhorn and company who described the syndrome in 1961, but it only appeared in German medical journals in 1965. WHS is also known for a variety of names, such as Wolf syndrome and 4p-syndrome.

What are the symptoms of Wolf Hirschhorn Syndrome?

The effects and severity of WHS differ from person to person, depending on how vast the deletions are. Problems that arise due to the missing genes range from mild to severe; the larger the extent of deleted genetic material, the more severe the symptoms are. WHS causes problems with the following:

  • Facial appearance

The syndrome is obvious on the person’s facial appearance, such as having a high forehead, flat and broad nasal bridge, widely-spaced and protruding eyes, small head and chin, and downturned mouths. The space between the upper lip and nose are unusually short, whereas the ears are poorly formed.

  • Growth and development

WHS causes developmental and growth delays even before the child is born. The syndrome is characterized by failure to thrive during infancy, small stature, weak muscles and poor muscle tone. Motor skills are delayed among infants, like sitting, walking and standing.

  • Intelligence

The effect on the intelligence range from mild to severe. Individuals who suffer from the syndrome also have weak language and communication skills. However, they have strong socialization capabilities.

  • Seizures

Seizures are common during childhood but these slowly disappear with age.

Affected individuals also experience skeletal and dental abnormalities like scoliosis and cleft lip or palate. WHS also causes problems with the eyes, heart, brain and even the genitals.

How is Wolf Hirscchorn Syndrome treated?

Treatment is aimed towards helping the patient manage the symptoms more effectively. Seizures are usually treated with anti-seizure medications. Muscle weakness and poor muscle tone are addressed by specialized occupational and physical therapies. Life expectancy is dependent on the severity of the condition. Though death usually occurs within the first year of the child’s life, some are able to survive even up to adulthood.

Wolf Hirscchorn Syndrome Pictures

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