What are the other Names for this Condition? (Also known as/Synonyms)

• 4p- Syndrome
• Monosomy 4p Syndrome
• Pitt-Rogers-Danks Syndrome

What is Wolf-Hirschhorn Syndrome? (Definition/Background Information)

• Wolf-Hirschhorn Syndrome (WHS) is a genetic disorder affecting many parts of the body with features such as unusual facial appearance, reduced growth development, and intellectual disability
• Wolf-Hirschhorn Syndrome is usually caused by a deletion of genetic material on chromosome 4. A family history of the condition is not usually observed, and most cases of WHS are not inherited
• There is no cure for Wolf-Hirschhorn Syndrome, but treatment interventions may be utilized symptomatically. The prognosis of the condition depends on the severity of the signs and symptoms

Who gets Wolf-Hirschhorn Syndrome? (Age and Sex Distribution)

• Wolf-Hirschhorn Syndrome is a rare congenital disorder that manifests at birth; it is usually detected during infancy
• Both males and females are at risk for the disorder
• Wolf-Hirschhorn Syndrome may be observed across all races and ethnic groups

What are the Risk Factors for Wolf-Hirschhorn Syndrome? (Predisposing Factors)

• Presently, there are no known risk factors for Wolf-Hirschhorn Syndrome (WHS)
• In very rare cases, the child may inherit WHS from a parent who does not present the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Wolf-Hirschhorn Syndrome? (Etiology)

• Wolf-Hirschhorn Syndrome is caused by a deletion of genetic material near the short arm of chromosome 4 (termed 4p minus or “4p-“)
• Wolf-Hirschhorn Syndrome can also be caused by a “balanced translocation” of genetic material, which means that there is a rearrangement of chromosomal material without any net addition or loss of genetic material
• Most cases of Wolf-Hirschhorn Syndrome occur sporadically (randomly), and a family history is generally not observed

What are the Signs and Symptoms of Wolf-Hirschhorn Syndrome?

The signs and symptoms of Wolf-Hirschhorn Syndrome may differ from one individual to another and vary in severity. These may include:

• Distinctive facial features including wide-spaced eyes, broad nose, high forehead, ear abnormalities, and small head (microcephaly)
• Intellectual disability
• Poor muscle growth
• Stunted growth
• Seizures

How is Wolf-Hirschhorn Syndrome Diagnosed?

Wolf-Hirschhorn Syndrome is diagnosed on the basis of the following information:

• Complete physical examination and evaluation of one’s family medical history
• Assessment of the presenting signs and symptoms
• Prenatal imaging studies: The physical signs of Wolf-Hirschhorn Syndrome may be shown in an ultrasound during pregnancy
• Karyotyping: An imaging test to visualize the chromosomes may be undertaken
• Fluorescence in situ hybridization (FISH): A karyotype with fluorescent probes to highlight the specific areas of abnormal DNA 
• Chromosomal microarray analysis (CMA): A test that is highly sensitive to microdeletions and microduplications of DNA

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Wolf-Hirschhorn Syndrome?

The major complications of Wolf-Hirschhorn Syndrome may include:

• Severe intellectual disability
• Heart and kidney defects
• Poor muscle tone (hypotonia)
• Scoliosis

How is Wolf-Hirschhorn Syndrome Treated?

Wolf-Hirschhorn Syndrome is a genetic disorder, so there is currently no cure for the condition. Treatment interventions are employed to alleviate the associated signs and symptoms and may include:

• Anti-seizure medications
• Physical therapy to manage poor muscle tone
• Surgery to repair physical defects
• Genetic counseling

How can Wolf-Hirschhorn Syndrome be Prevented?

There are currently no known prevention methods for Wolf-Hirschhorn Syndrome as the condition is genetic. In case of a positive family history, the following may be considered:

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Measures, such as avoidance of smoking, alcohol, and other harmful substances during pregnancy, can minimize the risk of genetic abnormalities in the fetus.

What is the Prognosis of Wolf-Hirschhorn Syndrome? (Outcomes/Resolutions)

• The prognosis of Wolf-Hirschhorn Syndrome depends on the severity of the associated signs and symptoms
• Individuals with mild signs and symptoms have a better prognosis than those with severe ones
• Individuals with significant congenital defects such as heart, kidney, and lung abnormalities are likely to have a poorer prognosis

Additional and Relevant Useful Information for Wolf-Hirschhorn Syndrome:

The following link is a useful resource for more information on rare diseases:

https://www.dovemed.com/diseases-conditions/rare-disorders/