Schinzel Giedion syndrome
Schinzel Giedion Syndrome
Schinzel Giedion Syndrome (pronounced: Shin-zel Gee-dee-on Syn-drome) is a rare genetic disorder characterized by severe intellectual disability, distinctive facial features, and multiple congenital malformations.
Etymology
The syndrome is named after the Swiss pediatricians, Andreas Schinzel and Albert Giedion, who first described the condition in 1978.
Symptoms
The symptoms of Schinzel Giedion Syndrome include hydronephrosis, hydroureter, midface hypoplasia, hypertrichosis, and seizures. Other symptoms may include hearing loss, visual impairment, and developmental delay.
Causes
Schinzel Giedion Syndrome is caused by mutations in the SETBP1 gene. This gene provides instructions for making a protein that is involved in controlling the activity of other genes. Mutations in the SETBP1 gene disrupt this control, leading to the signs and symptoms of Schinzel Giedion Syndrome.
Diagnosis
Diagnosis of Schinzel Giedion Syndrome is based on clinical features, including distinctive facial features and the presence of multiple congenital malformations. Genetic testing can confirm a diagnosis.
Treatment
Treatment for Schinzel Giedion Syndrome is symptomatic and supportive. This may include management of hydronephrosis, seizures, and other symptoms.
Prognosis
The prognosis for individuals with Schinzel Giedion Syndrome is generally poor, with most individuals not surviving past infancy or early childhood.
See Also
External links
- Medical encyclopedia article on Schinzel Giedion syndrome
- Wikipedia's article - Schinzel Giedion syndrome
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