CAMOS syndrome
CAMOS syndrome
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.
Also known as cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome, SCAR5 — per MONDO