Lujan–Fryns syndrome
Medical condition / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about Lujan–Fryns syndrome?
Summarize this article for a 10 year old
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.[4][5] These features include a tall, thin stature and long, slender limbs.[5] LFS is also associated with psychopathology and behavioral abnormalities, and it exhibits a number of malformations affecting the brain and heart.[6][7][8] The disorder is inherited in an X-linked dominant manner, and is attributed to a missense mutation in the MED12 gene.[3] There is currently no treatment or therapy for the underlying MED12 malfunction, and the exact cause of the disorder remains unclear.[9]
Lujan–Fryns syndrome | |
---|---|
Other names | X-linked mental retardation with Marfanoid habitus, Lujan syndrome[1][2][3] |
Lujan–Fryns syndrome in a young adult male, with features that include a long, narrow face and recessed chin. | |
Specialty | Medical genetics |