Raine

Raine syndrome is a rare, autosomal recessive disorder characterized by a variety of symptoms and physical abnormalities. The syndrome was first described in 1989 by Raine and colleagues, who identified it in a family of Bedouin descent. The syndrome is caused by mutations in the FAM20C gene, which is involved in the regulation of phosphate homeostasis in the body.

Symptoms and Signs

Raine syndrome is characterized by a variety of symptoms and physical abnormalities. These can include osteosclerosis, a condition characterized by an abnormal increase in bone density, and craniosynostosis, a condition in which the sutures in a baby's skull fuse too early. Other symptoms can include microcephaly, a condition characterized by a smaller than normal head size, and exophthalmos, a condition characterized by bulging eyes. Some individuals with Raine syndrome may also have intellectual disability.

Genetics

Raine syndrome is caused by mutations in the FAM20C gene. This gene provides instructions for making a protein that is involved in the regulation of phosphate homeostasis in the body. Mutations in the FAM20C gene disrupt the normal function of this protein, leading to the symptoms and physical abnormalities associated with Raine syndrome.

Diagnosis

The diagnosis of Raine syndrome is based on the presence of characteristic symptoms and physical abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the FAM20C gene.

Treatment

There is currently no cure for Raine syndrome. Treatment is supportive and based on the symptoms present in each individual. This can include surgery to correct craniosynostosis, and other treatments to manage symptoms such as osteosclerosis and exophthalmos.

Prognosis

The prognosis for individuals with Raine syndrome varies. Some individuals with the syndrome have a normal lifespan, while others may have a shortened lifespan due to complications associated with the syndrome.

See also

• List of genetic disorders
• List of rare diseases

Raine Resources
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