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Cockayne syndrome (CS)
Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay
Prevalence
1 / 100,000
660–1,100
US Estimated
2,025
Europe Estimated
Age of Onset
Infancy
ICD-10
Q87.8
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Early signs of Cockayne Syndrome often include feeding difficulties, developmental delay, and poor postnatal growth, typically emerging within the first two years of life
FACT
Clinical onset typically occurs in early childhood with features such as microcephaly, severe growth retardation, progressive neurological deterioration, and characteristic facial features
FACT
Photosensitivity is a hallmark symptom, often presenting without sunburns but with freckling and skin damage from minimal UV exposure
FACT
Ophthalmologic and auditory impairments are common and progressive, including cataracts, pigmentary retinopathy, optic nerve atrophy, and sensorineural hearing loss
FACT
There is no cure, and management is supportive, focusing on nutritional support, physical therapy, and symptom control; prognosis varies by type, with most children having significantly reduced life expectancy
Interest over time
Google searches
Common signs & symptoms
Severe growth failure
Progressive microcephaly
Premature aging
Neurodegeneration
Skeletal issues
Current treatments
Supportive care only
no cure available
Symptom management
physical therapy for contractures, cataract surgery, hearing aids
Drug caution
avoid metronidazole due to risk of liver failure