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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
Rosenthal syndrome Resources | ||
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Contributors: Prab R. Tumpati, MD