Raine syndrome

Raine Syndrome

Raine Syndrome (pronounced: rān sinˈdrōm) is a rare genetic disorder characterized by a variety of symptoms, including osteosclerosis, craniofacial dysmorphism, and cerebral calcification. The syndrome is named after the Australian pediatrician, Dr. Michael Raine, who first described the condition in 1989.

Etymology

The term "Raine Syndrome" is derived from the name of the Australian pediatrician, Dr. Michael Raine, who first described the condition in 1989. The word "syndrome" comes from the Greek "σύνδρομον" (syndromon), meaning "concurrence of symptoms," or "concurrence of diseases."

Symptoms and Diagnosis

The symptoms of Raine Syndrome can vary greatly from person to person. However, common symptoms often include osteosclerosis, craniofacial dysmorphism, and cerebral calcification. Other symptoms may include microcephaly, exophthalmos, and gingival hyperplasia.

Diagnosis of Raine Syndrome is typically based on the presence of these symptoms, as well as genetic testing to identify mutations in the FAM20C gene, which has been linked to the condition.

Treatment and Prognosis

There is currently no cure for Raine Syndrome. Treatment is typically supportive and focuses on managing the symptoms of the condition. This may include various therapies and interventions, such as physical therapy, speech therapy, and occupational therapy.

The prognosis for individuals with Raine Syndrome can vary greatly depending on the severity of the symptoms. Some individuals may have a normal lifespan, while others may experience life-threatening complications.

Related Terms

External links

Medical encyclopedia article on Raine syndrome
Wikipedia's article - Raine syndrome

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