In this article, we'll explore the causes, symptoms, diagnosis, treatment, and prevention strategies of Wolf-Hirschhorn syndrome (WHS).
Causes
In Wolf-Hirschhorn syndrome, genetic material on the short arm of chromosome 4 is deleted. This deletion typically occurs randomly and is not inherited. Its exact mechanism is unknown.
Symptoms
Wolf-Hirschhorn syndrome is characterized by a variety of physical and developmental symptoms, including:
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Typical facial features include a prominent forehead, widely spaced eyes (hypertelorism), a small jaw (micrognathia), and a broad, flat nasal bridge.
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WHS children often experience delays in growth and development, including sitting, crawling, and walking milestones.
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The majority of individuals with WHS have mild to severe intellectual disabilities.
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In individuals with WHS, seizures, particularly tonic-clonic seizures, are common.
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Congenital heart defects, such as atrial septal defects or ventricular septal defects, may occur in some individuals with WHS.
Diagnosis
The diagnosis of Wolf-Hirschhorn syndrome requires a combination of physical examination, medical history review, and genetic testing, including:
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Chromosomal analysis, such as karyotyping, can identify the deletion associated with WHS on chromosome 4.
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A fluorescence in situ hybridization (FISH) test may be used to confirm the deletion's presence and provide more information about its size and location.
Treatment
Wolf-Hirschhorn syndrome is treated by managing symptoms and providing supportive care. Treatment options include:
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A variety of early intervention programs, such as physical therapy, occupational therapy, and speech therapy, can help address developmental delays.
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In individuals with WHS, antiepileptic medications may be prescribed to control seizures.
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Any congenital heart defects or other physical abnormalities associated with WHS may require surgical intervention.
Prevention
There are no known preventive measures for Wolf-Hirschhorn syndrome since it is a genetic disorder caused by chromosomal deletions. In cases of WHS or individuals at increased risk of carrying the chromosomal deletion, genetic counseling may be offered. For pregnant women who carry the deletion or have a family history of WHS, prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis, may be offered.
