Lujan–Fryns syndrome

Lujan–Fryns syndrome (LFS) be an X-linked genetic disorder wey dey cause mild to moderate intellectual disability den features dem describe as Marfanoid habitus, wey dey refer to a group of physical characteristics similar to those dem find insyd Marfan syndrome. Dese features dey include a tall, thin stature den long, slender limbs. LFS sanso associate plus psychopathology den behavioral abnormalities, wey e dey exhibit a number of malformations wey dey affect de brain den heart. De disorder be inherited insyd an X-linked dominant manner, wey e be attributed to a missense mutation insyd de MED12 gene. Der be currently no treatment anaa therapy for de underlying MED12 malfunction, den e exact cause of de disorder dey remain unclear.

 References 

 Read further 

 GeneReview/NIH/UW entry on MED12-Related Disorders


 External links 

Category:Syndromes plus craniofacial abnormalities
Category:Syndromes plus intellectual disability
Category:X-linked dominant disorders
Category:Syndromes wey dey affect stature
Category:Syndromes wey dey affect de cardiovascular system
Category:Rare syndromes
Category:Syndromic autism
Category:Diseases dem name after discoverers