Symptom complex with long list of clinical features. Main characteristics are dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose giving the patient a prematurely old appearance, sparse hair, mental retardation, sensorineural deafness, blindness due to retinal degeneration, coarse voice, deep eyes, prognathism, thickened skull, hypersensitivity of the skin to sunlight with pigmentation and scarring, unsteady gait, dental caries appearing during the second year of life, progressive upper motor neurone and cerebellar dysfunction, lack of subcutaneous fat of the face.
Two distinct types of CS have been identified. CS type I is the classic and most common form. CS type II is more severe and characterized by the early onset of symptoms. Even though no two children with CS are identical, they often resemble each other more than they resemble their unaffected siblings because of the distinguishing characterists of the syndrome, especially as they get older.
Condition of unknown pathogenesis which usually presents in the 2nd year of life after normal infancy. Inheritance is autosomal recessive.
- E. A. Cockayne:
Dwarfism with retinal atrophy and deafness.
Archives of Disease in Childhood, London, 1936, 11: 148.
Archives of Disease in Childhood, London, 1946, 21: 52.
- C. Neill, M. M. Dingwall:
A syndrome resembling progeria. A review of two cases.
Archives of Disease in Childhood, London, 1950, 25: 213-221.
- V. A. McKusick:
Genetics and dermatology, or if I were to rewrite Cockayne’s inherited abnormalities of the skin.
Journal of Investigative Dermatology, New York, 1973, 60: 343.
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