Moeschler–Clarren syndrome

Moeschler–Clarren syndrome is a rare genetic disorder characterized by multiple congenital anomalies, intellectual disability, and growth retardation. The syndrome was first described by John B. Moeschler and Stephen J. Clarren in 1988.

Clinical Features

The clinical features of Moeschler–Clarren syndrome vary widely among affected individuals. Common features include microcephaly (small head size), hypotonia (low muscle tone), cleft palate, hearing loss, and visual impairment. Other features may include cardiac defects, skeletal abnormalities, and neurological problems such as seizures and developmental delay.

Genetics

Moeschler–Clarren syndrome is thought to be caused by mutations in an unknown gene. It 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. Most cases are thought to result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development.

Diagnosis

Diagnosis of Moeschler–Clarren syndrome is based on clinical features and may be confirmed by genetic testing. However, because the genetic cause of the syndrome is not yet known, genetic testing may not always be able to confirm the diagnosis.

Treatment

There is currently no cure for Moeschler–Clarren syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support. Individuals with the syndrome may also require treatment for specific symptoms such as seizures, hearing loss, and cardiac defects.

Prognosis

The prognosis for individuals with Moeschler–Clarren syndrome varies depending on the severity of symptoms. Some individuals may have mild symptoms and live into adulthood, while others may have severe symptoms and a shortened lifespan.

See Also

• List of genetic disorders
• Congenital anomalies
• Intellectual disability
• Growth retardation

NIH genetic and rare disease info

• NIH info on Moeschler–Clarren syndrome

Moeschler–Clarren syndrome is a rare disease.

Moeschler–Clarren syndrome Resources
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