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About: Lujan–Fryns syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:WikicatSyndromes, within Data Space : dbpedia.org associated with source document(s)

Type: ThingFuchs' dystrophyyago:WikicatX-linkedDominantDisordersyago:Abstraction100002137yago:Attribute100024264yago:Cognition100023271yago:Complex105870365yago:Concept105835747yago:Condition113920835yago:Content105809192yago:Disease114070360yago:Disorder114052403yago:Idea105833840yago:IllHealth114052046yago:Illness114061805yago:PathologicalState114051917yago:PhysicalCondition114034177yago:PsychologicalFeature100023100diseaseyago:State100024720yago:Syndrome105870790yago:Whole105869584yago:WikicatSyndromes New Facet based on Instances of this Class

Lujan–Fryns syndrome (LFS) 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 cause of the disorder remains unclear.