Term Name: fetal akinesia deformation sequence syndrome
Synonyms: arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, FADS, fetal akinesia sequence, foetal akinesia deformation sequence syndrome, foetal akinesia sequence, Pena-Shokeir syndrome type 1
Definition: A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
Ontology: Human Disease [DOID:0111375]   ( DOID:0111375 )

Relationships
is a type of: monogenic disease syndrome
has subtype: fetal akinesia deformation sequence syndrome 1 fetal akinesia deformation sequence syndrome 2 fetal akinesia deformation sequence syndrome 3 fetal akinesia deformation sequence syndrome 4 fetal akinesia deformation sequence syndrome X-linked