CAMOS syndrome

CAMOS syndrome is a rare condition that has been reported in a large Lebanese family. It is characterized by a non-progressive congenital ataxia, severe intellectual disability, optic atrophy, and structural anomalies of the skin vessels. In some affected children, short stature and microcephaly have also been noted. The condition follows an autosomal recessive pattern, meaning that it typically appears in children born to parents who are related. This summary is based on limited reports, which have described the syndrome in only a few individuals.

People with CAMOS syndrome commonly show signs such as congenital ataxia (movement difficulties), severe intellectual disability, optic atrophy (damage to the optic nerve), and abnormalities in the skin vessels. Additional physical findings may include short stature and microcephaly.

CAMOS syndrome is caused by genetic factors and follows an autosomal recessive pattern. This means that a child needs to inherit two copies of the altered gene, one from each parent, to show the condition. Specific gene mutations have not been identified in the provided sources.

Information about treatment is currently limited for this condition.

Because CAMOS syndrome is non-progressive, the movement and neurological challenges may remain stable over time, though severe intellectual disability and other features can have lasting impacts. Detailed information on long-term outcomes and quality of life is limited.

Information about current research is currently limited for this condition.