Cockayne Syndrome Clinical Presentation
- 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.
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- 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
- 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
- Salt and pepper retinal pigment, miotic pupils, cataracts, optic atrophy, corneal opacity, and nystagmus may be observed.
- Vision is preserved.
- Blepharokeratoconjunctivitis has been reported.
- 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.
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- 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.
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