Gillespie syndrome

Gillespie syndrome
Other namesAniridia-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.

Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency,[1][2][3] 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.[4] Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965.[1][3]

  1. ^ a b Gillespie, FD (Mar 1965). "Aniridia, cerebellar ataxia, and oligophrenia in siblings". Archives of Ophthalmology. 73 (3): 338–341. doi:10.1001/archopht.1965.00970030340008. PMID 14246186.
  2. ^ Online Mendelian Inheritance in Man (OMIM): 206700
  3. ^ a b synd/2006 at Who Named It?
  4. ^ Defreyn, A; Maugery, J; Chabrier, S; Coullet, J (Jan 2007). "Syndrome de Gillespie : un cas rare d'aniridie congénitale". Journal Français d'Ophtalmologie (in French). 30 (1): e1. doi:10.1016/s0181-5512(07)89554-4. PMID 17287663.