Gillespie syndrome

Also known as: aniridia-cerebellar ataxia-intellectual disability; aniridia-cerebellar ataxia-mental deficiency; aniridia, cerebellar ataxia, and mental retardation; partial aniridia-cerebellar ataxia-oligophrenia

Definition

Genetics Home Reference

Gillespie syndrome is a disorder that involves eye abnormalities, problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.

Gillespie syndrome is characterized by aniridia, which is the absence of the colored part of the eye (the iris). In most affected individuals, only part of the iris is missing (partial aniridia) in both eyes, but in some affected individuals, partial aniridia affects only one eye, or the entire iris is missing (complete aniridia) in one or both eyes. The absence of all or part of the iris can cause blurry vision (reduced visual acuity) and increased sensitivity to light (photophobia). Rapid, involuntary eye movements (nystagmus) can also occur in Gillespie syndrome.

The balance and movement problems in Gillespie syndrome result from underdevelopment (hypoplasia) of a part of the brain called the cerebellum. This abnormality can cause delayed development of motor skills such as walking. In addition, difficulty controlling the muscles in the mouth can lead to delayed speech development. The difficulties with coordination generally become noticeable in early childhood when the individual is learning these skills. People with Gillespie syndrome usually continue to have an unsteady gait and speech problems. However, the problems do not get worse over time, and in some cases they improve slightly.

Other features of Gillespie syndrome can include abnormalities in the bones of the spine (vertebrae) and malformations of the heart.

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Orphanet

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Ataxia Cerebellar ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Photophobia Extreme sensitivity of the eyes to light, Photodysphoria, Light hypersensitivity [more] Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Aniridia Absent iris Congenital absence of the iris.
Partial aniridia Sectoral aplasia of the iris.
Delayed speech and language development Poor speech acquisition, Deficiency of speech development, Impaired speech development, Speech and language difficulties, Language delayed, Language development deficit, Impaired speech and language development, Delayed speech development, Speech delay, Language delay, Speech difficulties, Delayed speech, Delayed speech acquisition, Late-onset speech development, Speech and language delay, Delayed language development [more] A degree of language development that is significantly below the norm for a child of a specified age.
Reduced visual acuity Central visual loss, Central blurring of vision, Poor visual acuity, Decreased visual acuity, Decreased central vision [more]
Nystagmus Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Progressive cerebellar ataxia Progressive ataxia
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development, Psychomotor development failure, Mental and motor retardation, Psychomotor delay, Delayed psychomotor development [more] A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Unsteady gait Unsteady walk, Gait instability
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Other Classifiers and IDs