/MASA syndrome

MASA syndrome

Rare Disease

MONDO:0010559

Also Known As

Gareis-Mason syndromeMASA syndromeX-linked complicated hereditary spastic paraplegia type 1X-linked corpus callosum agenesisX-linked spastic paraplegia 1hereditary spastic paraplegia 1intellectual disability-aphasia-shuffling gait-adducted thumbs syndromemasa syndrome, X-linked recessivespastic paraplegia, X-linkedCRASH syndromeCRASH syndrome, X-linked recessiveClasped thumb and intellectual disabilityClasped thumb and mental retardationadducted thumb with intellectual disabilityadducted thumb with mental retardationintellectual disability aphasia shuffling Gait adducted thumbs (MASA)intellectual disability, aphasia, shuffling Gait, and adducted thumbsmental retardation aphasia shuffling Gait adducted thumbs (MASA)mental retardation, aphasia, shuffling Gait, and adducted thumbsspastic paraplegia 1spastic paraplegia 1, X-linkedthumb congenital clasped with intellectual disabilitythumb congenital clasped with mental retardationthumb, congenital Clasped, with intellectual disabilitythumb, congenital Clasped, with mental retardation

Definition

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.