Juberg-Marsidi Syndrome

An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).

Epidemiology

Prevalence is unknown but since its initial description in 1980 several unrelated families with affected males have been reported.

Clinical description

The syndrome is characterised by facial dysmorphism (a flat and broad nasal bridge, prominent forehead, upslanting palpebral fissures, hypertelorism and various ear anomalies), growth failure, sensorineural deafness, microgenitalism and severe intellectual deficit.

Etiology

The syndrome is caused by mutations in the ATRX gene (Xq13.3).

Genetic counseling

Inheritance is X-linked recessive.