Rosenthal syndrome

Rosenthal syndrome is a rare genetic disorder characterized by intellectual disability, short stature, and distinct facial features. It is also known as Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ). The syndrome is named after the German physician Friedrich Rosenthal, who first described it in 1970.

Clinical Features

The clinical features of Rosenthal syndrome include intellectual disability, which is often severe. Affected individuals may also have a short stature and distinct facial features, such as a prominent forehead, wide-set eyes (hypertelorism), a small nose with upturned nostrils, and a wide mouth with full lips. Other features may include microcephaly (small head size), hearing loss, and seizures.

Genetics

Rosenthal syndrome is caused by mutations in the JARID1C gene, which is located on the X chromosome. This gene provides instructions for making a protein that is involved in the regulation of gene expression. The mutations that cause Rosenthal syndrome result in a reduction or loss of this protein's function, which disrupts normal development and leads to the features of the syndrome.

Because it is an X-linked disorder, Rosenthal syndrome primarily affects males. Females can be carriers of the disorder, but they typically have milder symptoms or are asymptomatic.

Diagnosis

Diagnosis of Rosenthal syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the JARID1C gene.

Treatment

There is currently no cure for Rosenthal syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to control seizures.

See Also

• Genetic disorder
• X-linked recessive inheritance
• JARID1C

Rosenthal syndrome Resources
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