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  • An X-linked mental retardation syndrome belonging to the group of conditions with the association of intellectual deficit and hypotonic facies. Prevalence is unknown but since its initial description in 1980 several unrelated families with affected males have been reported. The syndrome has characteristics of facial dysmorphism (a flat and broad nasal bridge, prominent forehead, up-slanting palpebral fissures, hypertelorism and various ear anomalies), growth failure, sensorineural deafness, microgenitalism and severe intellectual deficit. Inheritance is X-linked recessive and the syndrome is caused by mutations in the ATRX gene (Xq13.3).
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