Langer-Giedion Syndrome (TRPS2)

TRPS2, also known as Langer-Giedion syndrome, is an exceptionally uncommon hereditary disorder that affects multiple systems in the body. This condition is characterized by cognitive impairment and various other abnormalities, such as excessive skin folds, multiple bony growths, distinct facial features, and cone-shaped ends of the finger bones. The severity and range of symptoms can differ significantly among individuals. TRPS2 is typically inherited in an autosomal dominant manner, although sporadic cases have also been documented. The underlying cause of TRPS2 is the absence of genetic material, specifically chromosomal deletions on chromosome 8, which often involve the TRPS1 and EXT1 genes. The size of the deletion can vary from person to person.

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