Term Name: | fetal akinesia deformation sequence syndrome |
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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 ) |