Cockayne syndrome

When Cockayne syndrome (also Weber- Cockayne syndrome, or Neill- Dingwall syndrome) is a rare autosomal recessive disorder caused by a defect in the nucleotide Exzisionsreparatursystem ( DNA repair ), the transcription-coupled repair ( TCR ) is limited. The disease is similar to the Hutchinson -Gilford syndrome, this often runs worse.

There you will find red, scaly areas on sun-exposed skin, however, there are no pigmented lesions and skin tumors. Sufferers are characterized by slowed physical and mental development, the aging process is accelerated ( progeria ). Other symptoms such as microcephaly, Dysproportionierter short stature, deafness and diseases of the central nervous system, which will result in most gait disturbances and flexion contractures are observed. Note the facial malformations occurring, which include an abnormally further maxillary Board, enophthalmos with ptosis, low-set and malformed ears, and a bird -like facial profile in overt Cockayne syndrome. Have been described clinically, cases of cardiomyopathy and aortic dilatation. Depending on the clinical course, a distinction is a mild type I and a hard running type II

The average life expectancy is about 12 years, and death is often caused by a premature hardening of the arteries or by glomerulosclerosis. The disease results in severe cases, death to the age of 6.