Gustavson syndrome
Gustavson syndrome is a rare genetic disorder characterized by intellectual disability, hearing loss, and distinct facial features. It was first described by Swedish physician P. Gustavson in 1986, hence the name. The syndrome is also known as Gustavson's Syndrome or Gustavson's Mental Retardation Syndrome.
Etiology[edit | edit source]
The exact cause of Gustavson syndrome is unknown. However, it is believed to be a genetic disorder inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to develop the syndrome.
Symptoms[edit | edit source]
The primary symptoms of Gustavson syndrome include intellectual disability, hearing loss, and distinct facial features such as a prominent forehead, wide-set eyes, and a thin upper lip. Other symptoms may include seizures, microcephaly (small head size), and hypotonia (low muscle tone).
Diagnosis[edit | edit source]
Diagnosis of Gustavson syndrome is based on clinical examination and the presence of characteristic symptoms. Genetic testing may be used to confirm the diagnosis and identify the defective gene.
Treatment[edit | edit source]
There is currently no cure for Gustavson syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and occupational therapy to help improve the individual's quality of life.
Prognosis[edit | edit source]
The prognosis for individuals with Gustavson syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications associated with the syndrome.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Gustavson syndrome is a rare disease.
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