Machado-Josephcial Syndrome

VCFS -- also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 -- is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and over 180 other clinical findings

Related categories 1

Sites 3