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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Tests & Diagnosis
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. 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
- 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.