Cockayne Syndrome

Cockayne syndrome is a rare hereditary disease that usually leads to death by kids around 6 years old.

The Cockayne syndrome is caused by mutations in the gene that prevent patients from being exposed to sunlight, because the contact with ultraviolet rays develop sores on the skin, cataracts, stunting and premature aging, resulting in a premature death.

Symptoms

The symptoms of this syndrome are characterized by numerous metabolic problems in various organs, including hypersensitivity to sunlight, delayed motor development, mental retardation, impaired hearing and a characteristic facial appearance with small face, sunken eyes, sharp nose and jaws designed forward.

Diagnosis

Diagnosis is made through DNA testing that enables to identify the mutations present in the genes, and despite the short life of the child and there is no effective treatment for Cockayne syndrome, the diagnosis is extremely important as it provides the family the benefit genetic counseling and prenatal diagnosis in subsequent cases.

Types

There are 2 types of this syndrome in type I individuals appear to have normal development in the first year of life, and type II disease symptoms are present from birth, both types have a short life expectancy.