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Multiple pterygium syndrome Escobar type


Other Names for this Disease

  • Escobar syndrome
  • Multiple pterygium syndrome
  • Multiple pterygium syndrome nonlethal type
  • Pterygium colli syndrome
  • Pterygium syndrome
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Overview

Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures.[1] Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion.
Last updated: 1/29/2010

References

  1. Multiple pterygium syndrome, Escobar variant. Online Mendelian Inheritance in Man. 2008; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265000. Accessed 8/13/2009.
  2. Enns GM. NORD Guide to Rare Disorders: 'Multiple Pterygium Syndrome'. Philadelphia, PA: Lippincott Williams & Wilkins; 2003;
  3. Morgan NV et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. American Journal of Human Genetics. 2006;
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Basic Information

  • Genetics Home Reference (GHR) contains information on Multiple pterygium syndrome Escobar type. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Online Mendelian Inheritance in Man (OMIM) contains a gene summary on CHRNG. Mutations in this gene can cause multiple pterygium syndrome, Escobar type. Click on the link above to go to OMIM and review this summary.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Multiple pterygium syndrome Escobar type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Escobar syndrome
  • Multiple pterygium syndrome
  • Multiple pterygium syndrome nonlethal type
  • Pterygium colli syndrome
  • Pterygium syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.