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fetal akinesia deformation sequence (FADS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fetal akinesia deformation sequence

MONDO:0008824

Also known as:FADSarthrogryposis multiplex congenita-pulmonary hypoplasia syndromearthrogryposis multiplex congenita with pulmonary hypoplasia

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. 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.

OnsetANTENATAL

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for fetal akinesia deformation sequence.

17 publications have been identified in PubMed for fetal akinesia deformation sequence. Research spans Case Report / Case Series (41%), Basic Science / Preclinical (35%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Patient case studies	7	41%

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:9634

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fetal akinesia deformation sequence

Overview

Research Landscape

Medical References

External Resources

GARD

Subtypes

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Questions for Your Care Team

Questions for Your Care Team

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