CAMOS syndrome

Rare Disease

MONDO:0019374

Also Known As

SCAR5cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndromeCAMOScerebellar ataxia with intellectual disability optic atrophy and skin abnormalitiescerebellar ataxia with mental retardation optic atrophy and skin abnormalitiesspinocerebellar ataxia autosomal recessive 5

Definition

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.