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Lujan–Fryns syndrome
Lujan–Fryns syndrome (LFS), also referred to as X-linked mental retardation with Marfanoid habitus and Lujan syndrome, is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. These features include a tall, thin stature and long, slender limbs.〔 LFS is also associated with psychopathology and behavioral abnormalities, and it exhibits a number of malformations affecting the brain and heart. The disorder is inherited in an X-linked dominant manner, and is attributed to a missense mutation in the ''MED12'' gene.〔 There is currently no treatment or therapy for the underlying ''MED12'' malfunction, and the exact etiology of the disorder remains unclear.
== Characteristics ==
Intellectual disability in LFS usually ranges from mild to moderate, but severe cases have also been reported.〔 A relatively common brain anomaly seen with LFS is agenesis of the corpus callosum, an error of embryonic development in which the corpus callosum (a structure of the mammalian brain composed of nerves that allows communication between the left and right cerebral hemispheres) is not present.〔 Among a number of adverse neurological effects sometimes found with an absence of the corpus callosum, intellectual disability has been shown to occur at a rate of approximately 73 percent.〔 A correlation between agenesis of the corpus callosum and intellectual disability in LFS, however, has not been suggested.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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