Cockayne's syndrome

Cockayne’s syndrome, sometimes called Cockayne syndrome, is a genetic disease that results from an inability to repair damage to DNA. It is likely an autosomal recessive gene that affects about one in every 100,000 live births. It is named for Edward Alfred Cockayne, a physician who studied genetic diseases in children. Cockayne’s syndrome is linked to abnormality in two genes that code for the generation of proteins involved in nucleotide excision repair. more...

Forms of Cockayne’s syndrome

• CS Type I, or the “classic form”, is characterized by normal fetal growth with the onset of abnormalities in the first two years of life. Impairment of vision, hearing, and the central and peripheral nervous system progressively degenerate until death in the first or second decade of life.
• CS Type II, otherwise known as connatal CS, involves very little neurological development after birth. Death usually occurs by age 7.
• CS Type III is rare and is characterized by late onset. It is milder than Type I and Type II.
• Xeroderma-pigmentiosum-Cockayne syndrome (XP-CS) occurs when an individual also suffers from Xeroderma pigmentosum, another DNA repair disease. Some symptoms of each disease are expressed.

Symptoms

• Dwarfism
• Neurological impairments and delays in development
• Facial deformities
• Sensorinural deafness
• Abnormal sensitivity to UV radiation

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