CAMOS syndrome

CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.

Also known as: SCAR5, cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome, CAMOS, cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities, cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, spinocerebellar ataxia autosomal recessive 5

18 clinical trials for this condition and its sub-types, 0 tagged with CAMOS syndrome itself.