syndromic disease fetal akinesia deformation sequence https://github.com/monarch-initiative/mondo/issues/6878 https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence https://www.malacards.org/card/fetal_akinesia_deformation_sequence_1 OMIMPS:208150 DOID:0111375 MONDO:0008824 SCTID:401138005 fetal akinesia deformation sequence GARD:0009634 ICD9:754.89 FADS foetal akinesia sequence MESH:C536647 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. NCIT:C129071 multiple congenital anomalies/dysmorphic syndrome without intellectual disability arthrogryposis multiplex congenita obsolete non-syndromic respiratory or mediastinal malformation thoracic malformation