MASA syndrome
MASA syndrome
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.
Also known as Gareis-Mason syndrome, intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome, MASA syndrome, masa syndrome, X-linked recessive, spastic paraplegia, X-linked — per MONDO