Definition of MASA syndrome

MASA syndrome

MASA syndrome is characterized by several features: MASA stands for mental retardation, aphasia, shuffling gait, and adducted thumbs. Key aspects of the syndrome include:- Neurological: intellectual disability and aphasia (difficulty with speech)- Limbs: adducted (clasped) thumbs, absence of extensor pollicis longus and/or brevis muscles in the thumb, shuffling gait, and leg abnormalities- Growth: smaller body size- Skeletal: lordosis (curvature of the spine)MASA syndrome is inherited in an X-linked manner, which predominantly affects boys. Other names for this condition include clasped thumb and mental retardation, clasped thumb with mental retardation, adducted thumb with mental retardation, and Gareis-Mason syndrome.

Medical Definition & Meaning

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