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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Langer-Giedion syndrome

Reviewed February 2009

What is Langer-Giedion syndrome?

Langer-Giedion syndrome is a condition that causes bone abnormalities and distinctive facial features. People with this condition have multiple noncancerous (benign) bone tumors called exostoses. Multiple exostoses may result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the exostoses. Affected individuals also have short stature and cone-shaped ends of the long bones (epiphyses). The characteristic appearance of individuals with Langer-Giedion syndrome includes sparse scalp hair, a rounded nose, a long flat area between the nose and the upper lip (philtrum), and a thin upper lip. Some people with this condition have loose skin in childhood, which typically resolves with age. Affected individuals may have some intellectual disability.

How common is Langer-Giedion syndrome?

Langer-Giedion syndrome is a rare condition; its incidence is unknown.

What are the genetic changes related to Langer-Giedion syndrome?

Langer-Giedion syndrome is caused by the deletion or mutation of at least two genes on chromosome 8. Researchers have determined that the loss of a functional EXT1 gene is responsible for the multiple exostoses seen in people with Langer-Giedion syndrome. Loss of a functional TRPS1 gene may cause the other bone and facial abnormalities. The EXT1 gene and the TRPS1 gene are always missing or mutated in affected individuals, but other neighboring genes may also be involved. The loss of additional genes from this region of chromosome 8 likely contributes to the varied features of this condition.

Langer-Giedion syndrome is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes.

Related Chromosome(s)

Changes involving this chromosome are associated with Langer-Giedion syndrome.

  • chromosome 8

Related Gene(s)

Changes in these genes are associated with Langer-Giedion syndrome.

  • EXT1
  • TRPS1

Can Langer-Giedion syndrome be inherited?

Most cases of Langer-Giedion syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family. There have been very few instances in which people with Langer-Giedion syndrome have inherited the chromosomal deletion from a parent with the condition.

Langer-Giedion syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 8 in each cell is sufficient to cause the disorder.

Where can I find information about diagnosis or management of Langer-Giedion syndrome?

These resources address the diagnosis or management of Langer-Giedion syndrome and may include treatment providers.

  • Genetic Testing Registry: Langer-Giedion syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0023003)

You might also find information on the diagnosis or management of Langer-Giedion syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/langer-giedion-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/langer-giedion-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Langer-Giedion syndrome?

You may find the following resources about Langer-Giedion syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Langer-Giedion syndrome?

  • Giedion-Langer Syndrome
  • trichorhinophalangeal syndrome type II
  • tricho-rhino-phalangeal syndrome type II
  • TRPS II

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Langer-Giedion syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Langer-Giedion syndrome?

autosomal ; autosomal dominant ; benign ; cell ; chromosome ; contiguous ; contiguous gene deletion syndrome ; deletion ; disability ; exostoses ; gene ; gene deletion ; incidence ; inherited ; joint ; mutation ; philtrum ; reproductive cells ; short stature ; sperm ; stature ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Hilton MJ, Sawyer JM, Gutiérrez L, Hogart A, Kung TC, Wells DE. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J Hum Genet. 2002;47(3):103-6. (http://www.ncbi.nlm.nih.gov/pubmed/11950061?dopt=Abstract)
  • Riedl S, Giedion A, Schweitzer K, Müllner-Eidenböck A, Grill F, Frisch H, Lüdecke HJ. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. Am J Med Genet A. 2004 Dec 1;131(2):200-3. (http://www.ncbi.nlm.nih.gov/pubmed/15523607?dopt=Abstract)
  • Shanske AL, Patel A, Saukam S, Levy B, Lüdecke HJ. Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). Am J Med Genet A. 2008 Dec 15;146A(24):3211-6. doi: 10.1002/ajmg.a.32615. (http://www.ncbi.nlm.nih.gov/pubmed/19012352?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2009
Published: December 22, 2014