Inheritance from both parents will result in the disease
Age range at onset:
Type 1: 1 to 2 years Type 2: Neonatal Type 3: childhood to adulthood
Specialists you may see:
CS can be divided into three types. Type 1 or “classical begins in the first few years of life. Type 2 is more severe and begins at birth or shortly after. Type 3 is milder and may present in later childhood or as an adult. Some researchers see these as a spectrum of the same disease, others divide them into three types.
Characterised by short stature, facial abnormalities and microcephaly (unusually small head), those with CS will also see their skin age prematurely, experience extreme sensitivity to sunlight and suffer intellectual deficit. Wrinkled, aged appearance of the skin is caused by loss of fat under the skin. Facial abnormalities include an unusually thin nose, sunken eyes and poor eyelid closure, large misshapen ears and prognathism (protruding upper or lower jawbone). Tooth decay is likely to occur due to abnormal placement of the teeth. Sensorineural hearing loss and hepatomegaly (abnormally enlarged liver) are also common. Those with CS typically have large, cold hands and feet. Delayed development and progressive neurological problems (spasticity, lack of coordination, weakness, speech difficulties) are common.
Adults with Cockayne Syndrome may be sexually underdeveloped.
Genes involved in repairing damaged DNA are mutated in this condition. This is either the ERCC6 (or CSB) gene, or the ERCC8 gene (or CSA).
When DNA is damaged by UV rays from the sun, or by other factors such as toxic chemicals or radiation, those with CS are not able to repair it themselves. Errors in DNA accumulate, eventually causing cells to die.