A genetic disorder that negatively affects multiple parts of the body is called Wolf-Hirschhorn syndrome (WHS). It often occurs in children and affects their brains, height, and face. The primary cause of this condition is the absence of certain genes on chromosome 4. Furthermore, most diagnosed cases are not inherited (without a family history of the disease) and happen randomly. Physicians often recommend different treatments for children with this syndrome. Generally, treatments for WHS focus on relieving the symptoms because there is no way to cure this disease.
Sometimes, this genetic condition is called 4p syndrome. Those who develop this condition may experience seizures, different facial features (such as wide-set eyes and a small head), intellectual disabilities, and delayed growth and development.
In general, this is a rare condition because it affects 1 in every 50,000 infants. However, some children may have mild symptoms and never get diagnosed with this condition, or the symptoms may be misdiagnosed as other genetic disorders.
Symptoms
Commonly, the symptoms are different among children with WHS because it may affect different parts of the body. Check some examples below:
Facial Symptoms
These include:
- Cleft lip and cleft palate
- Flat nasal bridge
- Facial features and different sizes on each side of the face
- High forehead
- Missing teeth
- Micrognathia (small chin)
- Small head
- Bulging eyes
- Low-set or malformed ears
Development and Growth Symptoms
The following symptoms can usually be identified before the baby is born during a prenatal ultrasound. For example:
- Hypotonia (weak muscle tone)
- Underdeveloped muscles
- Feeding difficulties
- Trouble gaining weight
- Delayed development (such as short stature)
Brain Symptoms
Some people with WHS may develop problems with cognitive development (intellectual disability) that range from mild to severe. They may also experience seizures. However, seizures usually go away on their own with aging.
Body Systems Symptoms
Check below for other symptoms that may also happen in children with WHS:
- Scoliosis or kyphosis
- Dry skin
- Atrial septal defect
- Immune system deficiency, which often leads to an increased risk of recurrent infections
- Kidney function issues
- Urinary tract or reproductive organ problems
- Vision changes
Causes
This syndrome happens due to missing genes on the short arm of chromosome 4. This problem happens during the formation of the egg or sperm, or embryonic development. During this process, reproductive cells do not copy the chromosomes as they should.
Rarely, WHS happens due to a ring chromosome that breaks into 2 parts and then fuses in a circular shape. As a result, this fusion causes the removal of a part of the chromosome in the genetic code of a child.
Generally, when babies lose a part of the chromosome, the body does not have the instructions required to build the body properly. As a result, they develop WHS.
Can Wolf-Hirschhorn Syndrome be Inherited?
Yes, but cases of inherited WHS are very rare. In such cases, it is considered that biological parents have a balanced translocation. It means that they have either two or more chromosomes that broke and that the pieces switch their place and reattach. However, most people with balanced translocations are healthy but have an increased risk of having children with unbalanced translocations. When this translocation causes 4p16.3 to be deleted or absent, it may lead to WHS.
What Does Wolf-Hirschhorn Syndrome Affect?
Anyone may develop this condition. Most of the diagnosed cases are not inherited, which means the abnormal genes do not pass from biological parents to their children. It happens due to a chromosome deletion during egg or sperm development. Sometimes, it may occur in early embryonic development.
Some recent studies have shown that women are more likely to develop this genetic disorder than men.
How to Prevent Wolf-Hirschhorn Syndrome?
Nowadays, there is no sure way to prevent this disorder. While it can be inherited from biological parents, you may perform some genetic tests before becoming pregnant. For more details, discuss it with your healthcare professional.
Diagnosis
Healthcare professionals usually perform a physical examination to check for irregularities linked to the disease. These include growth or developmental problems, seizures, unusual facial features, and others. However, to confirm the condition, physicians may perform some tests. It also helps rule out other conditions that cause similar symptoms to WHS. They often perform a genetic test to examine the child’s DNA. If test results show that there is a missing piece of chromosome 4, your child will get the diagnosis.
Treatment
Usually, this condition is treated by a team of healthcare specialists. These include:
- Dentists
- Optometrists
- Cardiologists
- Neurologists
However, doctors recommend different treatments for people with WHS. Check some common options below:
- Physical and occupational therapy to improve muscle tone
- Medicines to reduce the severity and frequency of seizures
- Educational programs (these programs help improve the cognitive development of the child)
- Surgery (this procedure is often recommended to repair growth abnormalities)
Frequently Asked Questions
When should I see my child’s healthcare provider?
Immediately visit a doctor if you notice that your child experiences any of the following problems. Examples include:
- Poor eating
- Irregular heartbeat
- Shortness of breath
- Extreme tiredness (fatigue)
- Recurrent colds that cause fever, cough, or sore throat
- Wounds that would not heal themselves (sometimes, these wounds may look crusty and leak a clear to yellow pus)
When should I take my child to the ER?
It is recommended to go to the nearest emergency room (ER) or call 911 in the U.S. if your child experiences loss of consciousness, has convulsions, or sudden chest pain.
What is the life expectancy of a person with Wolf-Hirschhorn syndrome?
When this condition is not inherited, people may more than 34 years after diagnosis. However, when WHS is inherited, the survival rate significantly decreases to 18 years old. If you have additional questions, ask your healthcare provider.
