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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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
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Cause


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What causes fetal akinesia deformation sequence (FADS)?

Many underlying causes of fetal akinesia deformation sequence (FADS) have been recognized including genetic, environmental and maternal factors.[1] The features of the condition are largely due to decreased fetal activity/movement.[1] Failure of normal swallowing results in polyhydramnios (too much amniotic fluid), and lack of movement of the diaphragm and intercostal muscles leads to pulmonary hypoplasia (underdevelopment of the lungs). Lack of normal fetal movement also results in a short umbilical cord and multiple joint contractures.[2]

Possible causes for decreased fetal movement which may contribute to the features of FADS may include:[1]
  • Neurologic abnormalities such as cerebral and cerebellar dysgenesis (abnormal development); spinal tract, myelin, and end plate disturbances; and ischemia (deficient blood supply) with secondary loss of neuron function
  • Myopathic (muscle-related) abnormalities such as dystrophies and dyplasias
  • Connective tissue abnormalities including chondrodysplasias, restrictive skin, and joint limitation or laxity
  • Fetal edema for a variety of reasons (storage, metabolic, heart failure, lymphatic dysplasia, etc.)
  • Maternal illness, drugs, and antibodies (including maternal myasthenia gravis)
  • Ischemic changes during embryonic/fetal development, which may be due to developmental vascular abnormalities, trauma, hypotension, drugs, infections, and maternal illness or thrombophilia

Autosomal recessive inheritance of FADS has been implied in several published cases.[3] Genes in which mutations have been detected in affected individuals include the RAPSN and DOK7 genes.[4] According to current literature, the recurrence risk is estimated to be 10–25%.[3]

Last updated: 10/3/2012

References
  1. JG Hall. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. August 2009; 85(8):677-694.
  2. Fetal akinesia deformation sequence. Orphanet. July 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=994. Accessed 10/2/2012.
  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; 30(4):289-298.
  4. Fetal Akinesia Deformation Sequence; FADS. Online Mendelian Inheritance in Man (OMIM). April 2010; http://www.ncbi.nlm.nih.gov/omim/208150. Accessed 6/29/2011.