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 Moeschler and Clarren in 1988.

Clinical Features

The clinical features of Moeschler-Clarren syndrome are variable and may include microcephaly (small head size), hypotonia (low muscle tone), cleft palate, hearing loss, and visual impairment. Other features may include cardiac defects, renal anomalies, and skeletal abnormalities such as scoliosis.

Genetics

Moeschler-Clarren syndrome is thought to be an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the syndrome. The exact gene or genes involved in Moeschler-Clarren syndrome have not yet been identified.

Diagnosis

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

Treatment

There is no cure for Moeschler-Clarren syndrome. Treatment is supportive and based on the individual's specific symptoms. This may include physical therapy, speech therapy, and occupational therapy to help improve motor skills, communication, and daily living skills. Individuals with cardiac defects or renal anomalies may require surgical intervention.

Prognosis

The prognosis for individuals with Moeschler-Clarren syndrome varies depending on the severity of symptoms. With appropriate support and intervention, many individuals with the syndrome can lead fulfilling lives.

See Also

• Genetic disorder
• Autosomal recessive
• Congenital anomalies
• Intellectual disability

NIH genetic and rare disease info

• NIH info on Moeschler-Clarren syndrome

Moeschler-Clarren syndrome is a rare disease.

Moeschler-Clarren syndrome Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.