Cockayne Syndrome, Type B and Other ERCC6-related Disorders (ERCC6)
Cockayne syndrome, type B is an autosomal recessive disorder caused by pathogenic variants in the gene ERCC6. The onset of symptoms typically occurs within the first few years of life. This disorder is characterized by dwarfism, a premature aged appearance, developmental delay, and progressive loss of vision and hearing. Most individuals are sensitive to UV rays from sunlight and even short exposure can cause sunburn or blisters. Death typically occurs in the first or second decade of life, though individuals living into the third decade have been reported. Occasionally pathogenic variants in ERCC6 may cause other diseases such as Cerebrooculofacioskeletal syndrome 1, De Sanctis-Cacchione syndrome, UV-sensitive syndrome 1, and Premature ovarian failure 11. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.