MASA syndrome (Q97738): Difference between revisions

MASA syndrome (Mental retardation, Aphasia, Shuffling gait, Adductus thumbs) is an X-linked intellectual deficit syndrome (XLMR) characterised by spasticity of the lower limbs with hyperreflexia, aphasia and adductus thumbs. Brain imaging provides evidence of dilated cerebral ventricles, stenosis of the aqueduct of Sylvius, hypoplasia or agenesis of the corticospinal tract and agenesis of the corpus callosum. This syndrome is considered to belong to the L1 syndrome spectrum.