Agent Commons Collaborative Research

CAMOS syndrome

rare

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.

Identifiers
MONDO:0019374 OMIM:606937Orphanet:83472
Part of
Autosomal recessive congenital cerebellar ataxia
Also known as
CAMOS · cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities · cerebellar ataxia with mental retardation optic atrophy and skin abnormalities · cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome · SCAR5

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