MASA syndrome

Definition:

MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs) is an X-linked disorder. The main clinical features are summarised by the acronym. Mutations in the gene for neural cell adhesion molecule L1 (L1CAM) have been reported from families of MASA syndrome, X-linked recessive spastic paraplegia, and X-linked aqueductal stenosis or hydrocephalus (HSAS) [DS:H02458] and these syndromes form part of a clinical spectrum resulting from a heterogenous group of mutations in L1CAM.

References:

[1]. J W Bianchine, et al. The MASA syndrome: a new heritable mental retardation syndrome. Clin Genet. 1974;5(4):298-306. [Content Brief]

[2]. M Jouet, et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet. 1994 Jul;7(3):402-7. [Content Brief]

[3]. R M Winter, et al. MASA syndrome: further clinical delineation and chromosomal localisation. Hum Genet. 1989 Jul;82(4):367-70. [Content Brief]

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