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.
MONDO:0015221
obsolete non-syndromic respiratory or mediastinal malformation (obsolete MONDO:0015221)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015168
arthrogryposis multiplex congenita
is_a
MONDO:0015929
thoracic malformation
is_a
FADS
exact
fetal akinesia deformation sequence
exact
foetal akinesia sequence
related
SPBC13A2.02