Urban–Schosser–Spohn syndrome

Urban–Schosser–Spohn syndrome is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. The syndrome was first described by the physicians Urban, Schosser, and Spohn in the late 20th century.

Symptoms and Signs

The symptoms of Urban–Schosser–Spohn syndrome vary widely among affected individuals. Common features include intellectual disability, seizures, microcephaly (small head size), hypotonia (low muscle tone), and distinctive facial features such as a prominent forehead, wide-set eyes, and a thin upper lip. Some individuals may also have congenital heart defects, hearing loss, and abnormalities of the skeletal system.

Causes

Urban–Schosser–Spohn syndrome is caused by mutations in a specific gene. The exact gene involved is currently unknown, but it is believed to play a crucial role in early brain development. The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell must have mutations for an individual to be affected.

Diagnosis

Diagnosis of Urban–Schosser–Spohn syndrome is based on clinical examination and the presence of characteristic symptoms. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for Urban–Schosser–Spohn syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and speech therapy to help improve motor skills and communication abilities. Medication may be used to manage seizures.

Prognosis

The prognosis for individuals with Urban–Schosser–Spohn syndrome varies depending on the severity of symptoms. With appropriate support and treatment, many individuals can lead fulfilling lives.

See Also

• List of genetic disorders
• Autosomal recessive inheritance
• Intellectual disability

NIH genetic and rare disease info

• NIH info on Urban–Schosser–Spohn syndrome

Urban–Schosser–Spohn syndrome is a rare disease.

Urban–Schosser–Spohn syndrome Resources
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