Exner syndrome

Exner syndrome is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. The syndrome is named after the Austrian physician Franz Exner, who first described the condition in the late 19th century.

Symptoms and Signs

The symptoms of Exner syndrome can vary widely among affected individuals. Common features include intellectual disability, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features such as a prominent forehead, wide-set eyes, and a small jaw. Some individuals with Exner syndrome may also have congenital heart defects, kidney abnormalities, and/or skeletal abnormalities.

Causes

Exner syndrome is caused by mutations in a specific gene known as the EXN gene. This gene provides instructions for making a protein that is involved in the development of various tissues and organs during embryonic development. Mutations in the EXN gene disrupt this normal development, leading to the features of Exner syndrome.

Diagnosis

Diagnosis of Exner syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the EXN gene.

Treatment

There is currently no cure for Exner syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and treatment for any heart, kidney, or skeletal abnormalities.

Prognosis

The prognosis for individuals with Exner syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management, while others may have life-threatening complications.

See also

• Genetic disorder
• Intellectual disability
• Microcephaly
• Hypotonia

NIH genetic and rare disease info

• NIH info on Exner syndrome

Exner syndrome is a rare disease.

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