Type III Cockayne Syndrome, also known as Cockayne syndrome type C, is a rare genetic disorder characterized by abnormal growth, cognitive impairments, and premature aging. It is an autosomal recessive disorder, which means that two copies of the defective gene, one from each parent, are required for the syndrome to manifest.
Individuals with Type III Cockayne Syndrome typically have a normal lifespan compared to other forms of the syndrome. However, they still experience significant physical and neurological abnormalities. Symptoms typically appear in early childhood and progressively worsen over time.
Physical features of Type III Cockayne Syndrome may include short stature, skeletal abnormalities, an unusually small head size (microcephaly), and extreme sensitivity to sunlight (photosensitivity). Neurologically, affected individuals may experience developmental delays, intellectual disability, hearing and vision problems, and seizures.
Unlike the more severe forms of Cockayne Syndrome, individuals with Type III Cockayne Syndrome may be able to walk, although their mobility may become progressively limited with age. They may also exhibit abnormal eye movements and an unsteady gait.
There is currently no cure for Type III Cockayne Syndrome, and treatment mainly focuses on managing symptoms and improving quality of life. Multidisciplinary care, including regular monitoring by a medical team that may include various specialists, such as a neurologist, ophthalmologist, and physiotherapist, is essential to address the various aspects of the syndrome. Genetic counseling is also recommended for families affected by Type III Cockayne Syndrome.
