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Diseases

Genetic and Rare Diseases Information Center (GARD)

Robinow syndrome


Other Names for this Disease
  • Robinow dwarfism
  • Fetal face syndrome
  • Acral dysostosis with facial and genital abnormalities
  • Covesdem syndrome (formerly)
  • Costovertebral segmentation defect with mesomelia (formerly)
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Tests & Diagnosis

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Is genetic testing available for Robinow syndrome?

Genetic testing for autosomal recessive Robinow syndrome and autosomal dominant Robinow syndrome is available. However, not all people diagnosed with either type of Robinow syndrome have mutations in the genes known to cause these conditions. In these cases, the cause remains unknown. Carrier testing for autosomal recessive Robinow syndrome is possible if the disease-causing mutations have been identified in an affected family member.

The Genetic Testing Registry (GTR) provides information about the genetic tests for Robinow syndrome. 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.
Last updated: 10/5/2015


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.
Other Names for this Disease
  • Robinow dwarfism
  • Fetal face syndrome
  • Acral dysostosis with facial and genital abnormalities
  • Covesdem syndrome (formerly)
  • Costovertebral segmentation defect with mesomelia (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.