/ataxia-hypogonadism-choroidal dystrophy syndrome

ataxia-hypogonadism-choroidal dystrophy syndrome

Rare Disease

MONDO:0008980

Also Known As

BNHSBoucher-Neuhauser syndromeBoucher-Neuhchäuser syndromeBoucher-Neuhäuser syndromechorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadismspinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophyataxia - hypogonadism - choroidal dystrophy

Definition

Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.