Ridley Syndrome

Ridley syndrome, also known as small head syndrome and Ridley type microcephaly, is a rare genetic disorder that affects the development of the brain and skull bones. This syndrome was originally described in 1985 by British geneticist John Ridley.

The main symptom of Ridley syndrome is microcephaly, that is, an abnormally small head size. This is due to underdevelopment of the brain, which can lead to mental retardation and other health problems. In addition, patients with Ridley syndrome often have abnormalities of the skull bones, such as small eye sockets and undeveloped sinuses.

Ridley syndrome is a genetic disorder caused by defects in the MCT8 gene, which encodes a protein involved in the transport of thyroid hormones across the cell membrane. These hormones are necessary for the proper development of the brain and other organs.

Diagnosis of Ridley syndrome is based on clinical signs, including microcephaly and cranial bone abnormalities, as well as genetic tests to detect mutations in the MCT8 gene.

Treatment for Ridley syndrome is aimed at improving the quality of life of patients. This may include physical therapy, treatment for epilepsy, which often accompanies the syndrome, and educational support for children with mental retardation.

Although Ridley syndrome is a rare disease, studying it can help in understanding the development of the brain and bones of the skull. Moreover, research into this syndrome may lead to the development of new treatments and improvements in the lives of patients with other diseases related to brain development.