Wolf–Hirschhorn syndrome
Wolf–Hirschhorn syndrome
Wolf–Hirschhorn syndrome (pronunciation: /wʊlf ˈhɪrʃhɔːrn/), also known as 4p- syndrome, is a rare genetic disorder caused by a partial deletion of the short arm of chromosome 4.
Etymology
The syndrome is named after the two doctors, Kurt Hirschhorn and Herbert L. Cooper, who first identified it in 1961. The term "4p-" refers to the specific location of the genetic mutation on the fourth chromosome.
Symptoms
Symptoms of Wolf–Hirschhorn syndrome can vary widely among individuals. Common symptoms include distinctive facial features, delayed growth and development, intellectual disability, and seizures. Other symptoms may include heart defects, hearing loss, and eye abnormalities.
Diagnosis
Diagnosis of Wolf–Hirschhorn syndrome is typically made through a combination of clinical examination and genetic testing. Genetic testing can confirm the presence of the 4p deletion.
Treatment
There is currently no cure for Wolf–Hirschhorn syndrome. Treatment is supportive and based on the symptoms in each individual. This may include physical therapy, special education, and medication for seizures.
Prognosis
The prognosis for individuals with Wolf–Hirschhorn syndrome varies. Some individuals may have mild symptoms and live into adulthood, while others may have severe symptoms and a shortened lifespan.
See also
External links
- Medical encyclopedia article on Wolf–Hirschhorn syndrome
- Wikipedia's article - Wolf–Hirschhorn syndrome
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