Lujan–Fryns syndrome

Lujan–Fryns syndrome
Other namesX-linked mental retardation with Marfanoid habitus, Lujan syndrome
Lujan–Fryns syndrome in a young adult male, with features that include a long, narrow face and recessed chin.
SpecialtyMedical genetics

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.

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