MASA syndrome

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.

Also known as: Gareis-Mason syndrome, MASA syndrome, intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome, masa syndrome, X-linked recessive, spastic paraplegia, X-linked, CRASH syndrome, CRASH syndrome, X-linked recessive, Clasped thumb and intellectual disability

2 clinical trials for this condition and its sub-types.