Cockayne's syndrome

Last reviewed 01/2018

Cockayne's syndrome is a very rare autosomal recessive degenerative disease characterised by cutaneous, ocular, neurologic and somatic abnormalities.

Cutaneous findings include photosensitivity, diffuse hyperpigmentation and loss of subcutaneous fat.

Ocular findings include cataracts, optic atrophy and a characteristic "salt and pepper" appearance of the retina.

Neurologic findings include deafness, peripheral neuropathy, normal pressure hydrocephalus and microcephaly. The pathogenesis of the neurological dysfunction is thought to be dysmyelination.

Somatic abnormalities include cachectic dwarfism - height and weight are usually below the third percentile for age. Immature sexual maturation is common. Patients have a characteristic facies with deep-set eyes, prominent ears and a wizened facial appearance. Premature aging and early death may occur (1).

Reference:

• (1) Kraemer KH et al. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007;145(4):1388-96