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What is the prevalence of Gillespie syndrome?

How many people does Gillespie syndrome affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Gillespie syndrome

Gillespie syndrome is an extremely rare genetic disorder characterized by the combination of partial aniridia (absence of the iris) and cerebellar ataxia (lack of muscle coordination). Due to its rarity, the prevalence of Gillespie syndrome is not well-established. However, it is estimated to affect only a small number of individuals worldwide. The syndrome is typically diagnosed in early childhood and can lead to various visual impairments and motor difficulties. Genetic counseling and supportive therapies are important for managing the symptoms and improving the quality of life for individuals with Gillespie syndrome.



Gillespie syndrome is an extremely rare genetic disorder that affects the development of the eyes and the nervous system. Due to its rarity, the prevalence of Gillespie syndrome is not well-documented in the medical literature. However, it is estimated to occur in less than 1 in every 1 million individuals.



Gillespie syndrome is characterized by a combination of symptoms including partial or complete absence of the iris (aniridia), involuntary eye movements (nystagmus), and intellectual disability. Other features may include developmental delay, low muscle tone, and ataxia.



Since Gillespie syndrome is so rare, it can often go undiagnosed or misdiagnosed. The exact cause of the syndrome is not fully understood, but it is believed to be caused by mutations in the ITPR1 gene.



Given its rarity, it is crucial for individuals suspected of having Gillespie syndrome to undergo thorough genetic testing and evaluation by a team of specialists. Early diagnosis and intervention can help manage the symptoms and provide appropriate support for affected individuals and their families.


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