Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Fetal akinesia deformation sequence


Other Names for this Disease
  • Arthrogryposis multiplex congenita with pulmonary hypoplasia
  • FADS
  • Fetal akinesia sequence
  • Pena-Shokeir syndrome, type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis


Newline Maker

Is genetic testing available for fetal akinesia deformation sequence?

There are quite a few potential underlying causes of fetal akinesia deformation sequence (FADS). Sometimes the cause is unknown, sometimes the cause is known and is not genetic, and other times although a genetic cause may be suspected, genetic testing may not be available. Currently, genetic testing is available for two genes in which mutations have reportedly caused the condition in specific cases.

GeneTests lists the names of the laboratories that are performing genetic testing for FADS. To view the contact information for these laboratories, click on the following links:
DOK7-Related Fetal Akinesia Deformation Sequence
RAPSN-Related Fetal Akinesia Deformation Sequence

Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 10/3/2012