Vici syndrome

A rare genetic disorder

Vici syndrome

Diagram of autosomal recessive inheritance

Vici syndrome is a rare genetic disorder characterized by a combination of congenital anomalies and progressive neurological deterioration. It is inherited in an autosomal recessive pattern and is caused by mutations in the EFCAB7 gene.

Clinical features

Vici syndrome presents with a wide array of clinical features, which can vary in severity among affected individuals. The hallmark features include:

• Callosal agenesis: Absence or malformation of the corpus callosum, the structure that connects the two hemispheres of the brain.
• Cataracts: Clouding of the lens of the eye, leading to impaired vision.
• Cardiomyopathy: A disease of the heart muscle that can lead to heart failure.
• Immunodeficiency: Increased susceptibility to infections due to a weakened immune system.
• Hypopigmentation: Reduced pigmentation of the skin, hair, and eyes.
• Developmental delay: Delayed achievement of developmental milestones.

Genetics

Vici syndrome is caused by mutations in the EFCAB7 gene, which is located on chromosome 18. The disorder follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Parents of an affected child are typically carriers of the mutation, meaning they have one normal and one mutated copy of the gene but do not show symptoms of the disorder.

Diagnosis

The diagnosis of Vici syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the EFCAB7 gene. Magnetic resonance imaging (MRI) of the brain can reveal callosal agenesis and other structural abnormalities.

Management

There is currently no cure for Vici syndrome, and management is primarily supportive and symptomatic. This may include:

• Physical therapy and occupational therapy to address developmental delays and improve motor skills.
• Cardiology evaluation and management for cardiomyopathy.
• Ophthalmology evaluation for cataracts and other eye issues.
• Immunology consultation for managing immunodeficiency.

Prognosis

The prognosis for individuals with Vici syndrome is generally poor, with many affected individuals experiencing significant neurological and systemic complications. Life expectancy is often reduced, although the severity and progression of symptoms can vary widely.

Related pages

• Genetic disorder
• Autosomal recessive inheritance
• Neurological disorder