MASA syndrome

MASA syndrome
MASA syndrome
Classification and external resources
OMIM 303350

MASA syndrome, also called CRASH syndrome and Gareis-Mason syndrome,[1] is a rare X-linked recessive[2] neurological disorder.

The acronym "MASA" describes the four major symptoms - Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs.[3] The disorder has been associated with mutations in the L1CAM gene.[4] (The term "CRASH", for "corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus" has also been used to describe L1CAM-related disorders.)[5]

References

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 303350
  2. ^ Winter RM, D. K. (July 1989). "MASA syndrome: further clinical delineation and chromosomal localisation". Human Genetics 82 (4): 367–370. PMID 2737668.  edit
  3. ^ Bianchine JW, Lewis RC (1974). "The MASA syndrome: a new heritable mental retardation syndrome". Clin. Genet. 5 (4): 298–306. doi:10.1111/j.1399-0004.1974.tb01697.x. PMID 4855169. 
  4. ^ Ruiz JC, Cuppens H, Legius E, et al. (July 1995). "Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS". Journal of medical genetics 32 (7): 549–52. doi:10.1136/jmg.32.7.549. PMC 1050549. PMID 7562969. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1050549. 
  5. ^ Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995). "CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1". European Journal of Human Genetics 3 (5): 273–84. PMID 8556302. 

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  • MASA — • Medical Association of South Africa; • mental retardation aphasia shuffling gait adducted thumbs [syndrome]; • mutant allele specific amplification …   Dictionary of medical acronyms & abbreviations

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