General
Cockayne syndrome is a collective term for a group of three very rare genetically determined congenital disorders with complex manifestations. It occurs in fewer than 1 in 250,000 live births.
Causes
The cause is a genetic mutation, with each subtype of the disease involving a mutation in a different specific gene.
Symptoms
The first two types of the disease are relatively severe and cause death during childhood, before reaching puberty.
The third type is the rarest and has a milder course. Affected individuals have a small head and short, dwarf‑like stature.
Neurological disorders are present and gradually worsen. Mental retardation is often present, along with impaired ability to stand and walk. Vision and hearing problems also develop; retinal degeneration occurs, and cataracts form. Patients often have an aged appearance due to rapidly aging skin, which is very sensitive to sunlight. In male children, undescended testicles occur more frequently.
Diagnosis
The diagnosis can be established by genetic testing.
Treatment
Prevention does not exist, and the syndrome cannot be cured. Patients should be exposed to sunlight as little as possible.
- starecký vzhľad
- malá hlava
- nízka postava
- mentálna retardácia (stredná až ťažká)
- poruchy zraku a sluchu
- degenerácie sietnice (až k šedému zákalu)
- u mužov nezostúpené semenníky
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