Fisher-Evans Syndrome

Fisher-Evans syndrome

Fisher-Evans syndrome is a rare genetic disease characterized by multiple congenital malformations.

The description of the syndrome was first presented by American doctors J.A. Fisher and R.S. Evans in 1971.

The main signs of Fisher-Evans syndrome:

1. craniofacial anomalies - microcephaly, midface hypoplasia, high palate

2. malformations of the limbs - syndactyly, polydactyly, hallux valgus

3. stunting

4. mental retardation of varying severity

5. damage to the heart, kidneys, liver

6. visual and hearing impairments

The cause of the syndrome is mutations in the EFTUD2 gene, located on chromosome 17q21.31.

Treatment is mainly symptomatic and aimed at correcting developmental defects. The prognosis for life and health is unfavorable.

Thus, Fisher-Evans syndrome is a severe multiple congenital disease that requires a multidisciplinary approach to treatment. Early diagnosis and comprehensive therapy can improve the quality of life of patients.

Fisher-Evans syndrome: from the first manifestation to 80 years after it *Fisher-Evans syndrome is a nonspecific reaction of the human body, which is determined by seasonal changes in atmospheric pressure.* __Where? For what? How?__ First of all, you need to know what seasonal reactions and weather dependence are. In patients with Fisher–Evans syndrome, seasonal exacerbations occur at different times of the year, from spring exacerbations in the spring and October or November to autumn and summer exacerbations in some cases. However, seasonal conditions do not always appear with clear periods of exacerbation, but still most exacerbations last during periods of elevated weather conditions. Before the doctor gives recommendations and prescribes treatment, he must determine the season of maximum exacerbation of the patient's Fisher-Evanes syndrome. In this case, the treatment will be selected most accurately. __Tips for treating the syndrome__ **Sea holidays**. Beneficial influence of the marine environment