Pena Shokeir syndrome, type 1

Common Name(s)

Pena Shokeir syndrome, type 1, Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia, Fetal Akinesia Deformation Sequence

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. 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. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. 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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pena Shokeir syndrome, type 1" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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