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Other Names for this Disease
- Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
- Radial and patellar aplasia
- Radial and patellar hypoplasia
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Tests & Diagnosis
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- 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.