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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
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Tests & Diagnosis

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How is multiple pterygium syndrome, Escobar type diagnosed?

Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms in the patient. This syndrome should be considered in patients with webs across different body joints, particularly if additional signs and symptoms are present (e.g., subtle facial feature differences). Because skeletal birth defects (especially spine defects), are relatively common in Escobar syndrome radiographs of the complete skeleton may be helpful in diagnosis.[1] Genetic testing for multiple pterygium syndrome, Escobar type is available on a limited basis. This testing can be done using linkage analysis or by sequencing the coding region for the gene.
Last updated: 1/29/2010

References
  1. Enns GM. NORD Guide to Rare Disorders: 'Multiple Pterygium Syndrome'. Philadelphia, PA: Lippincott Williams & Wilkins; 2003;


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
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.