Gillespie syndrome
Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency, is a rare genetic disorder. The disorder is characterized by partial aniridia (meaning that part of the iris is missing), ataxia (motor and coordination problems), and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner. Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965.
| Gillespie syndrome | |
|---|---|
| Other names | Aniridia-cerebellar ataxia-intellectual disability, Partial aniridia-cerebellar ataxia-oligophrenia |
Gillespie syndrome can be inherited in either an autosomal dominant (left) or autosomal recessive (right) pattern. | |
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