Ruzicka Goerz Anton syndrome is a rare genetic disease described by Ruzicka et al. in 1981. It is characterized by icthyosis (rough, scaly skin), deafness, mental retardation, and skeletal anomalies.

It is also known as "Ichthyosis deafness mental retardation skeletal anomalies".

Symptoms

The primary symptoms of Ruzicka Goerz Anton syndrome include ichthyosis, deafness, oligophrenia

Mental retardation

Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...

, and skeletal deformities.

Treatment

Therapy with Ro 10-9359, a retinoid

Retinoid

The retinoids are a class of chemical compounds that are related chemically to vitamin A. Retinoids are used in medicine, primarily due to the way they regulate epithelial cell growth....

 derivative, results in improvement of the ichthyosis portion of the syndrome.

Cases

In 1981, a case was studied by Ruzicka et al. of a 15-year-old girl. The patient had ichthyosis congenita as well as deafness and retarded mental development. Further studies showed several skeletal deformities including brachydactyly

Brachydactyly

Brachydactyly , is a medical term which literally means "shortness of the fingers and toes" . The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait...

, clinodactyly

Clinodactyly

-References:...

, and extra ribs. One year earlier, the patient had developed thyroid carcinoma, but whether or not this is due to the syndrome is unknown. The patient was treated with an oral retinoid, which greatly improved the patient's ichthyosis.

External Links

• Ruzicka Goerz Anton syndrome at the Genetic and Rare Diseases Information Center
• Causes of Ichthyosis at RightDiagnosis.com