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Langer-Giedion Syndrome

 


 

Langer-Giedion Syndrome is an extremely rare genetic, multi-system disorder that belongs to the group of diseases known as Ectodermal Dysplasias. Langer-Giedion Syndrome is characterized by fine, thin hair; unusual facial features; progressive growth retardation resulting in short stature; abnormally short fingers and toes (brachydactyly); "cone-shaped" formation of the "growing ends" of certain bones; development of multiple bony growths (exostoses) projecting outward from the surfaces of various bones of the body; and/or additional abnormalities. [from the Langer-Giedion Syndrome Association]

Chromosome region: 8q24.11-q24.13

Also known as: (tricho-rhino-phalangeal syndrome (TRPS) type II)

 


Links to Langer-Giedion sites:


 

 
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The University of Wisconsin Cytogenetic Services Laboratory is affiliated with the Waisman Center, the University of Wisconsin Comprehensive Cancer Center, and the Wisconsin State Laboratory of Hygiene
 


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