Cockayne Syndrome Clinical Presentation

Updated: Oct 27, 2016
  • Author: Suguru Imaeda, MD; Chief Editor: William D James, MD  more...
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Patients with Cockayne syndrome usually appear normal at birth. Eventually, they present with a typical facial appearance of a pinched, narrow face and a beaked nose. Mental retardation, microcephaly, and growth failure become evident over time. Photosensitivity and progressive worsening neurologic signs and symptoms of ataxia and quick jerky movements are also noted.

In Cockayne syndrome I, the phenotypic features of Cockayne syndrome may be subtle early in the disease course. The signs become evident later in the first decade of life.

In CS-II, severe developmental delays are evident in the immediate postnatal period, and characteristic facies may be present by age 2 years.


Physical Examination

Appearance and habitus in Cockayne syndrome

Microcephaly, a thin nose, and large ears give the patient a Mickey Mouse appearance.

Patients may be cachectic.

Skin findings in Cockayne syndrome

Photosensitive eruption with erythema and scale may be observed.

Affected areas show hyperpigmentation, telangiectasia, and atrophy.

Subcutaneous lipoatrophy results in sunken eyes and an aged progeric appearance.

Cyanotic acral edema of the extremities [13]

Nail dystrophies and hair anomalies [13]

Musculoskeletal findings in Cockayne syndrome

Microcephaly, short stature, long limbs with joint contractures, large hands and feet, kyphosis, thickened calvariae, sclerotic epiphyses of the fingers, and osteoporosis may be observed.

Neurologic findings in Cockayne syndrome

Intracranial calcifications and diffuse demyelination of the central nervous system and the peripheral nerves result in progressive neurologic deterioration, such as ataxia, tremors, and cog wheeling.

Mental retardation may be noted.

Progressive sensorineural deafness may occur.

Ophthalmologic findings in Cockayne syndrome  [14]

Salt and pepper retinal pigment, miotic pupils, cataracts, optic atrophy, corneal opacity, and nystagmus may be observed.

Vision is preserved.

Blepharokeratoconjunctivitis has been reported. [15]

Dental findings in Cockayne syndrome

Caries may be present.

Endocrinologic findings in Cockayne syndrome

Hypogonadism occurs in 30% of males.

Irregular menses occur in females.



Cells with a defective DNA repair mechanism are sensitive to UV light.

Decreased DNA and RNA synthesis, increased sister chromatid exchanges, and increased chromosomal breaks may occur.

In Cockayne syndrome II, the defective CS group B protein, an SNF2-family DNA-dependent ATPase, is implicated in transcription elongation, transcription coupled repair, and DNA base excision repair. [16]



In Cockayne syndrome, death by the second or third decade of life occurs as a result of progressive neurologic degeneration.