MASA syndrome
Encyclopedia
MASA syndrome, also called CRASH syndrome and Gareis-Mason syndrome, is a rare X-linked recessive neurological disorder.
The acronym "MASA" describes the four major symptoms - Mental retardation
, Aphasia
, Shuffling gait, and Adducted thumb
s. The disorder has been associated with mutations in the L1CAM gene. (The term "CRASH", for "corpus callosum
hypoplasia
, retardation
, adducted thumb
s, spastic paraplegia, and hydrocephalus
" has also been used to describe L1CAM-related disorders.)
The acronym "MASA" describes the four major symptoms - Mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
, Aphasia
Aphasia
Aphasia is an impairment of language ability. This class of language disorder ranges from having difficulty remembering words to being completely unable to speak, read, or write....
, Shuffling gait, and Adducted thumb
Thumb
The thumb is the first digit of the hand. When a person is standing in the medical anatomical position , the thumb is the lateral-most digit...
s. The disorder has been associated with mutations in the L1CAM gene. (The term "CRASH", for "corpus callosum
Corpus callosum
The corpus callosum , also known as the colossal commissure, is a wide, flat bundle of neural fibers beneath the cortex in the eutherian brain at the longitudinal fissure. It connects the left and right cerebral hemispheres and facilitates interhemispheric communication...
hypoplasia
Hypoplasia
Hypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...
, retardation
Retardation
Retardation is the act or result of delaying; the extent to which anything is retarded or delayed; that which retards or delays. In particular, it can mean:-In engineering:* Negative acceleration in mechanics Retardation is the act or result of delaying; the extent to which anything is retarded...
, adducted thumb
Thumb
The thumb is the first digit of the hand. When a person is standing in the medical anatomical position , the thumb is the lateral-most digit...
s, spastic paraplegia, and hydrocephalus
Hydrocephalus
Hydrocephalus , also known as "water in the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head,...
" has also been used to describe L1CAM-related disorders.)