Cockayne Syndrome and differential diagnosis [51 genes]

Cockayne syndrome is a rare genetic disease characterized by growth deficiency, microcephaly, progressive neurological decline, and abnormal sensitivity to sunlight. Affected children present with developmental delay, hearing and vision loss, teeth alterations, and apparent premature aging. There are different clinical forms (types I, II, and III), whose severity and age of onset range from severe cases present at birth to milder forms with a later-onset.

• Around 1:200,000 individuals in European countries (ORPHA:191).

The Cockayne Syndrome NGS Panel allows confirming the molecular diagnosis, distinguishing it from other syndromes with similar phenotypes, and offering accurate genetic counseling to families.

It is indicated in patients with growth retardation, microcephaly, photosensitivity, and progressive neurological decline, especially when a disorder within the Cockayne/COFS spectrum is suspected.