Evans Syndrome

Evans syndrome

Evans syndrome (also known as Fisher-Evans syndrome) is a rare genetic disorder characterized by the development of bone and soft tissue tumors.

The syndrome is named after the American doctor R.S. Evans, who first described the disease in 1971. Evans syndrome is caused by mutations in the EXT1 or EXT2 gene, located on chromosomes 8 and 11, respectively. These genes play an important role in the synthesis of heparan sulfate, a substance necessary for regulating the growth of bones and cartilage tissue.

The main clinical manifestations of Evans syndrome are multiple exostoses (benign tumors of cartilage tissue) in the area of ​​long bones, pelvis and spine. Exostoses can cause pain, limit joint mobility, and also lead to pathological fractures. In addition, some patients develop malignant tumors of bones and soft tissues.

Treatment of Evans syndrome is mainly symptomatic and includes surgical removal of exostoses and, if necessary, antitumor therapy. The prognosis with early diagnosis and adequate treatment is favorable. However, patients with Evans syndrome require lifelong monitoring for timely detection of complications.

Evans syndrome is a rare genetic disease characterized by damage to the auditory nerve and asymmetrical damage to the brain (left and right hemispheres).

Evans syndrome was discovered in 1962 by physician Evans R.S. The disease was named after him. With this pathology, damage to the nervous system usually appears in childhood. But before symptoms become apparent, Evans disease usually develops into an unrecognized form of autism.

Autism is a mental disorder in which social interaction skills are impaired, speech delays and problems with emotions are common, although the individual's personality remains visible. The symptoms of Evans syndrome and autism are similar, which is why doctors often confuse the two pathologies.

Symptoms: - Difficulties in perceiving speech, sounds, complex sign language. - Limited attention to the environment; sometimes completely ignore