The acronym "MASA" stands for the four main signs and symptoms associated with the syndrome: (1) mental retardation (mild to moderate intellectual disability), (2) aphasia (delayed onset of speech), (3) shuffling gait, and (4) adducted thumbs[4] characterized by cleft palate, microcephaly, and dysmyelination.

[6] Spasticity of the lower limbs, causing the muscles to stiffen or tighten, preventing normal fluid movement.

It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres.

[9] MASA syndrome has been associated with variants in the L1CAM gene[1] which is an axonal glycoprotein that is essential for normal development of the central and peripheral nervous systems during the fetal period and postnatally.

[12][13] As of now, the only treatment for this disease is expertise in pediatrics, child neurology, neurosurgery, rehabilitation, and medical genetics.

The patient was a 10-year-old boy with symptoms like, mild mental retardation, bilateral adducted thumbs and corpus callosum hypoplasia.