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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
More Names
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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.

References

  1. Multiple pterygium syndrome, Escobar variant. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265000. Accessed August 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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General Information

  • Genetics Home Reference (GHR) contains information on Multiple pterygium syndrome Escobar type. Click on the link to go to GHR and review the information.
  • 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.
  • 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.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Multiple pterygium syndrome Escobar type. Click on the link to go to OMIM and review these resources.