Gillespie syndrome synonyms

Gillespie syndrome, also known as aniridia-ptosis-intellectual disability-familial obesity syndrome (APFO), is a rare genetic disorder that affects multiple systems in the body. It is characterized by the presence of aniridia (partial or complete absence of the iris), ptosis (drooping of the upper eyelid), intellectual disability, and familial obesity.

Aniridia, the hallmark feature of Gillespie syndrome, refers to the absence or underdevelopment of the iris, the colored part of the eye. This can lead to various vision problems, including sensitivity to light, reduced visual acuity, and nystagmus (involuntary eye movements).

Ptosis, or drooping of the upper eyelid, is another common characteristic of Gillespie syndrome. It can affect one or both eyes and may impair vision if severe.

Intellectual disability is a significant component of Gillespie syndrome. Individuals with this condition often have developmental delays, learning difficulties, and impaired cognitive function. The severity of intellectual disability can vary widely among affected individuals.

Familial obesity is a distinguishing feature of Gillespie syndrome. It refers to the tendency for affected individuals to have increased body weight, often starting in childhood. The exact mechanisms underlying this obesity are not fully understood.

Gillespie syndrome is caused by mutations in the ITPR1 gene, which plays a role in calcium signaling within cells. The inheritance pattern of this condition is autosomal dominant, meaning that a mutation in one copy of the gene is sufficient to cause the disorder.

Diagnosis of Gillespie syndrome is typically based on clinical evaluation, including a thorough examination of the eyes, assessment of intellectual abilities, and identification of characteristic physical features. Genetic testing can confirm the diagnosis by detecting mutations in the ITPR1 gene.

Management of Gillespie syndrome involves a multidisciplinary approach to address the various symptoms and complications associated with the disorder. This may include regular eye examinations, corrective lenses or surgery for vision problems, educational support for intellectual disability, and strategies for weight management.

In conclusion, Gillespie syndrome, also known as APFO, is a rare genetic disorder characterized by aniridia, ptosis, intellectual disability, and familial obesity. It is caused by mutations in the ITPR1 gene and requires a comprehensive approach to manage its diverse symptoms.