fetal akinesia deformation sequence
http://purl.obolibrary.org/obo/MONDO_0008824
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. [ https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence ]
Term info
- OMIMPS:208150 (MONDO:equivalentTo)
- SCTID:401138005 (MONDO:equivalentTo)
- MESH:C536647 (MONDO:equivalentTo)
- ICD9:754.89 (MONDO:relatedTo)
- GARD:0009634 (MONDO:equivalentTo)
- DOID:0111375 (MONDO:equivalentTo)
- NCIT:C129071 (MONDO:equivalentTo)
gard_rare, ordo_malformation_syndrome
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.
http://identifiers.org/mesh/C536647, http://identifiers.org/snomedct/401138005, https://omim.org/phenotypicSeries/PS208150, http://purl.obolibrary.org/obo/DOID_0111375, http://purl.obolibrary.org/obo/NCIT_C129071
http://purl.obolibrary.org/obo/MONDO_0015221
fetal akinesia deformation sequence, FADS, arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
arthrogryposis multiplex congenita with pulmonary hypoplasia, fetal akinesia sequence
MONDO:0008824
https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence