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Fetal akinesia deformation sequence

Other Names for this Disease
  • Arthrogryposis multiplex congenita with pulmonary hypoplasia
  • FADS
  • Fetal akinesia sequence
  • Pena-Shokeir syndrome, type 1
More Names
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Overview


Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities.[1][2] It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia.[3] About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia.[1] FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes.[4]


References

  1. Fetal akinesia deformation sequence. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=994. Accessed October 2, 2012.
  2. JG Hall. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. August 2009.
  3. F Hoellen et al. Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review. Fetal Diagn Ther. 2011.
  4. Fetal Akinesia Deformation Sequence; FADS. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/omim/208150. Accessed June 29, 2011.
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General Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fetal akinesia deformation sequence. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fetal akinesia deformation sequence. Click on the link to go to OMIM and review these resources.