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Diseases

Genetic and Rare Diseases Information Center (GARD)

Multiple pterygium syndrome Escobar type


Other Names for this Disease
  • Escobar syndrome
  • Multiple pterygium syndrome nonlethal type
  • Pterygium syndrome
  • Multiple pterygium syndrome
  • Pterygium colli 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.

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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • 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 nonlethal type
  • Pterygium syndrome
  • Multiple pterygium syndrome
  • Pterygium colli 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.