Cockayne spectrum with or without cerebrooculofacioskeletal syndrome

Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is a multisystem condition that affects many parts of the body. It is caused by changes in a gene that is important for repairing DNA. This condition is inherited in an autosomal recessive pattern, which means a child must receive a copy of the changed gene from each parent to show symptoms. People with this condition often experience severe growth failure starting at birth. They may have little or no neurologic development after birth, and many also have eye abnormalities such as congenital cataracts. The condition includes issues such as early joint contractures and abnormal spinal curves, which can affect the quality of life significantly.

Common signs include growth failure at birth, little or no postnatal neurologic development, and congenital eye problems like cataracts. Many affected individuals also show early joint contractures and spinal abnormalities such as kyphosis or scoliosis.

The condition is caused by pathogenic variants in the ERCC6 gene. These changes affect the production of the ERCC-6 protein, which plays a key role in repairing DNA. The problem is inherited in an autosomal recessive manner, meaning two copies of the variant are needed for the condition to develop.

Information about treatment is currently limited for this condition.

This condition is very severe. In many cases, death occurs by about five years of age. Quality of life and long-term outcomes are significantly impacted, although detailed information on variability in prognosis is limited.

Information about current research is currently limited for this condition.