Fetal akinesia deformation sequence
Other Names for this Disease
- Arthrogryposis multiplex congenita with pulmonary hypoplasia
- Fetal akinesia sequence
- Pena-Shokeir syndrome, type 1
What causes fetal akinesia deformation sequence (FADS)?
Is genetic testing available for fetal akinesia deformation sequence?
Possible causes for decreased fetal movement which may contribute to the features of FADS may include:
- 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. Genes in which mutations have been detected in affected individuals include the RAPSN and DOK7 genes. According to current literature, the recurrence risk is estimated to be 10–25%.
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.
- 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.
- JG Hall. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. August 2009; 85(8):677-694.
- 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.
- 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.