Langer-Giedion syndrome
Natural Standard Bottom Line Monograph, Copyright © 2009 (www.naturalstandard.com). Commercial distribution prohibited. This monograph is intended for informational purposes only, and should not be interpreted as specific medical advice. You should consult with a qualified healthcare provider before making decisions about therapies and/or health conditions.
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Related Terms:
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Autosomal dominant disorder, continuous gene deletion syndrome, exostoses, hereditary multiple exostoses type 1, Langer-Giedion syndrome, tricho-rhino-phalangeal syndrome type 1, trichorhinophalangeal syndrome, trichorhinophalangeal syndrome type II, TRPS2. |
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Langer-Giedion syndrome (LGS) is a very rare genetic disorder that is characterized by distinct facial features and bone abnormalities, including thinly-growing hair, large nose and ears, and malformed fingers and toes. |
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LGS is caused by mutation, or damage, to genes along one section of one of the cell's chromosomes, which are the structures within each cell that control how that cell develops. The mutation that causes LGS removes a section of chromosome 8 that contains two genes, EXT1 and TRPS1. |
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The EXT1 gene provides the instructions for making a protein that is needed to form new blood vessels. Mutations in this gene cause a disease called hereditary multiple exostoses type 1. This disease is characterized by the growth of exostoses, which are bony growths on the ends of some bones, including those in the arms, legs, hips, and spine. |
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Mutations in TRPS1 cause a condition called tricho-rhino-phalangeal syndrome type 1, which is characterized by abnormal facial and head features, including sparse hair, ears that stick out, a large and round nose, and flat upper lip. People missing this gene also develop cone-shaped tips on the ends of some bones, commonly those in the hands and feet. |
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Natural Standard Monograph
(www.naturalstandard.com)
Copyright © 2009 Natural Standard Inc. Commercial distribution or
reproduction prohibited.
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The information in this monograph is intended for informational purposes
only, and is meant to help users better understand health concerns.
Information is based on review of scientific research data, historical
practice patterns, and clinical experience. This information should not be
interpreted as specific medical advice. Users should consult with a
qualified healthcare provider for specific questions regarding therapies,
diagnosis and/or health conditions, prior to making therapeutic decisions.
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