Cockayne syndrome type 2
Cockayne Syndrome Type 2 (also known as CS Type II or CS2) is a rare, autosomal recessive neurodegenerative disorder that is characterized by a variety of symptoms including severe growth failure, sensory impairments, and a markedly reduced lifespan. It is one of the three types of Cockayne Syndrome (CS), a group of disorders named after the British physician Edward Alfred Cockayne, who first described them in the early 20th century.
Symptoms and Diagnosis[edit | edit source]
The symptoms of CS Type II typically become apparent at birth or during infancy. These may include microcephaly (an abnormally small head), failure to thrive, impaired development of the nervous system, and photosensitivity. Other symptoms can include hearing loss, eye abnormalities, severe feeding difficulties, and a lack of normal reflexes or responsiveness.
Diagnosis of CS Type II is based on clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include molecular genetic testing, which can identify mutations in the ERCC6 and ERCC8 genes that cause the disorder.
Treatment and Prognosis[edit | edit source]
There is currently no cure for CS Type II, and treatment is symptomatic and supportive. This may include physical therapy to improve mobility and manage contractures, special education services for those with developmental delays, and routine treatment for hearing loss and eye abnormalities.
The prognosis for individuals with CS Type II is poor, with most individuals not surviving past childhood. However, some individuals with milder forms of the disorder have been reported to live into adolescence or early adulthood.
Research Directions[edit | edit source]
Research is ongoing to better understand the genetic causes of CS Type II and to develop effective treatments. Current research directions include studying the role of DNA repair in the disorder and exploring potential gene therapy approaches.
NIH genetic and rare disease info[edit source]
Cockayne syndrome type 2 is a rare disease.
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