GAPO Syndrome (Segugio Italiano)

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Find out if your Segugio Italiano could develop GAPO Syndrome at CAGT.

Overview

This is a rare but severe disease that significantly reduces the lifespan of affected dogs. It is a syndromic condition, meaning it affects multiple organ systems. The disease is known in humans as GAPO syndrome (growth retardation, alopecia, pseudoanodontia, and optic atrophy), and the clinical signs observed in Segugio Italiano cases closely overlap with those reported in humans. The condition has an early onset and is inherited in an autosomal recessive manner. Affected dogs typically exhibit pseudoanodontia, with teeth that are either partially erupted or absent, as well as skeletal abnormalities such as shortened limbs. Craniomaxillofacial abnormalities are also common and include a shortened mandible with overshot occlusion, a convex upper skull profile, and a shortened nose. Ocular abnormalities may include glaucoma, endothelial oedema, and increased tortuosity of the fundus vessels. In addition, affected dogs often develop alopecia and mantle lichenisation, resulting in thickened, leathery skin.

Gene TBC
Assay Type Variant Specific
Inheritance Autosomal Recessive
Severity Moderate-Severe: The welfare of affected animals is significantly affected and life expectancy is usually reduced.