Cockayne's syndrome

Cockayne's syndrome

[kok·ānz′]
Etymology: Edward Alfred Cockayne, English physician, 1880-1956
an autosomal-recessive syndrome of dwarfism with retinal atrophy and deafness, associated with progeria, prognathism, mental retardation, and photosensitivity.
References in periodicals archive ?
The reported findings included homozygous changes to the ERCC6 gene, a gene associated with Cockayne's syndrome, a rare autosomal recessive syndrome that is usually fatal in childhood.
Watson having classic Cockayne's syndrome is much less than 1%, so finding ho mozygous changes to his ERCC6 gene via genetic screening does not significantly change the disease probability.
Now, just back from Boston, she has been told she could receive a drug expected to become available early next year and which could halt the progress of the debilitating Cockayne's syndrome.
But specialists in the US said she has a rare type of Cockayne's syndrome.
LMA has been used in patients with various pediatric syndromes, including craniodiaphyseal dysplasia, the mucopolysaccharidoses, Freeman-Sheldon syndrome, Hurler's syndrome, and Cockayne's syndrome.
Instead, the family raised the money to take her to America where specialists say she has a rare type of Cockayne's syndrome.