fetal akinesia deformation sequence
Findings
No curated finding names fetal akinesia deformation sequence yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008824), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: fetal akinesia deformation sequence
- Also called
- FADS