Canadian Medical Guide > Diseases > Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dwarfism > Cockayne Syndrome Terms and Definitions

Cockayne Syndrome

Medical Definition:	An inherited syndrome phenotypically characterized by unusual facies (large ears and sunken eyes), growth failure, intellectual deterioration, loss of subcutaneous fat, pigmentary retinal degeneration, neural deafness, dwarfism, photosensitivity, optic atrophy, peripheral neuropathy, and cataracts. Pathologic examination reveals a patchy loss of central myelin and white matter atrophy. Cockayne syndrome may be divided into two or more distinct genetic subtypes. (Menkes, Textbook of Child Neurology, 5th ed, p197)
Guide Notes:	a form of dwarfism & premature senility
Also Called:	Cockayne Syndrome, Group A,Cockayne Syndrome, Group B,Cockayne Syndrome, Group C
Previously Indexed:	Dwarfism (1966-1980),Photosensitivity Disorders (1966-1980)

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